Rett syndrome - Knowledge

628:). In this context, a reduction in the number and soma size of Th-expressing neurons is present from 5 weeks of age and is accompanied by a decrease of Th immunoreactivity in the caudate-putamen, the principal target of dopaminergic neurons arising from the SNpc. Moreover, a neurochemical analysis of dopaminergic contents in microdissected midbrain and striatal areas revealed a reduction of dopamine at five and nine weeks of age. It is noteworthy that later on (at nine weeks), the morphological parameters remain altered but not worsened, whereas the phenotype progresses and behavioral deficits are more severe. The amount of fully activated Th (Serine40-phosphorylated isoform) in neurons that remain in the SNpc is mildly affected at 5 weeks but severely impaired by 9 weeks. Finally, using a chronic and oral L-Dopa treatment on 317:

repeatedly moving the hands to the mouth often begin during this stage which is called mouthing. The child may hold the hands clasped behind the back or held at the sides, with random touching, grasping, and releasing. The movements continue while the child is awake but disappear during sleep. Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing usually improves during sleep. Some girls also display autistic-like symptoms such as loss of social interaction and communication. Walking may be unsteady and initiating motor movements can be difficult. Slowed head growth is usually noticed during this stage.

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treatments. High oxidative stress levels in individuals with RTT have exacerbated effects on their cardiorespiratory health and functionality, dramatically increasing the risk for sudden cardiac death—an anomaly that has an associated 300x increased occurrence risk in children with Rett Syndrome. Due to this, it is vital to closely monitor atypical breathing behaviors in children with RTT, making sure to effectively use lifesaving respiratory improvement devices and strategies as prescribed.

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the diagnosis must be met, as well as five of the eleven supportive criteria. A period of symptom regression followed by recovery or symptom stabilization must also occur. Children are often misdiagnosed as having autism, cerebral palsy, or another form of developmental delay. A positive test for the MECP2 mutation is not enough to make a diagnosis.

968:, physical therapist, occupational therapist, speech-language pathologist, nutritionist, and support services in academic and occupational settings. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. 1193:, a pediatrician in Vienna Austria, first described the condition in 1966. As his writings were in German, they did not become widely known in the English-speaking world. Bengt Hagberg, a Swedish pediatrician, published an English article in 1983 and named the condition after Rett. In 1999, Lebanese-American physician 349:, and muscle weakness, rigidity, spasticity, and increased muscle tone with abnormal posturing of an arm or leg. Girls who were previously able to walk may stop walking. Cognition, communication, or hand skills generally do not decline in stage IV. Repetitive hand movements may decrease and eye gaze usually improves. 1110:

There have, however, been several cases of 46,XY karyotype males with a MECP2 mutation (associated with classical Rett syndrome in females) carried to term, who were affected by neonatal encephalopathy and died before 2 years of age. The incidence of Rett syndrome in males is unknown, partly owing to

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It has been argued that Rett syndrome is in fact a neurodevelopmental condition as opposed to a neurodegenerative condition. One piece of evidence for this is that mice with induced Rett Syndrome show no neuronal death, and some studies have suggested that their phenotypes can be partially rescued by

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variant of Rett Syndrome or preserved speech variant: in this subtype of Rett syndrome the patients acquire some manual skills and language is partially recovered around the age of 5 years (that is after the regression phase). Height, weight and head circumference are often in the normal range, and a

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Prescribed treatment methods may vary depending on the breathing characteristic phenotype expressed by the child. Physicians have identified three major RTT breathing phenotypes; forceful breathers, feeble breathers, and apneustic breathers. For forceful breathers, for example, rebreathing masks may

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For a classic diagnosis, all four criteria for ruling in a diagnosis must be met, as well as the two criteria for ruling out a diagnosis. Supportive criteria may also be present, but are not required for diagnosis. For an atypical or variant diagnosis, at least two of the four criteria for ruling in

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has another X chromosome with an ostensibly normal copy of the same gene, while a male with the mutation on his X chromosome has no other X chromosome, only a Y chromosome; thus, he has no normal gene. Without a normal gene to provide normal proteins in addition to the abnormal proteins caused by a

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The nigro-striatal pathway originates from the SNpc; its principal rostral target is the caudate-putamen (CPu), which it irradiates through the median forebrain bundle (MFB). This connection is involved in the tight modulation of motor strategies computed by a cortico-basal ganglia-thalamo-cortical

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Stage II, or the rapid destructive stage, usually begins between ages 1 and 4 and may last for weeks or months. Its onset may be rapid or gradual as the child loses purposeful hand skills and spoken language. Characteristic hand movements such as wringing, washing, clapping, or tapping, as well as

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Stage I, called early-onset, typically begins between 6 and 18 months of age. This stage is often overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may not notice the subtle slowing of development at first. The infant may begin to show less eye contact and

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Researchers have concluded that "Because these neurons are a pivotal source of norepinephrine throughout the brainstem and forebrain and are involved in the regulation of diverse functions disrupted in Rett syndrome, such as respiration and cognition, we hypothesize that the locus coeruleus is a

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While medicinal interventions to mitigate breathing challenges in children with Rett Syndrome (RTT) are still being developed, children with RTT may be prescribed rebreathing techniques (e.g., rebreathing masks), oxygen delivery, or non-invasive ventilation as preventative or rescue breathing

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Dysregulation of the nigrostriatal pathway is causative from Parkinson disease (PD) in humans. Toxic and/or genetic ablation of SNpc neurons produces experimental parkinsonism in mice and primates. The common features of PD and PD animal models are motor impairments (hypotonia, bradykinesia,

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RTT pathology, in some aspects, overlaps the motor phenotype observed in PD patients. Several neuropathological studies on postmortem brain samples argued for an SNpc alteration, evidenced by neuromelanin hypopigmentation, reduction in the structure area, and even, controversially, signs of

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Rett syndrome diagnosis involves close observation of the child's growth and development to observe any abnormalities in regards to developmental milestones. A diagnosis is considered when decreased head growth is observed. Conditions with similar symptoms must first be ruled out.

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have reduced interest in toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually lasts for a few months but can continue for more than a year.

268:. It almost always occurs as a new mutation, with less than one percent of cases being inherited. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with 578:

apoptosis. In parallel, a hypometabolism was underlined by a reduction of several catecholamines (dopamine, noradrenaline, adrenaline) and their principal metabolic by-products. Mouse models of RTT are available; the most studied are constitutively deleted

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is under study in animal models to achieve regulated expression of a normal MECP2 gene. In March 2022, Taysha Gene Therapies announced that they had received Clinical Trial Application (CTA) approval from Health Canada for a clinical trial of their

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that typically becomes apparent after 6-18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a

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or shortly after birth. MECP2 is found near the end of the long arm of the X chromosome at Xq28. An atypical form of RTT, characterized by infantile spasms or early onset epilepsy, can also be caused by a mutation to the gene encoding

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located on the X chromosome (which is involved in transcriptional silencing and epigenetic regulation of methylated DNA), and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes

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Rett initially called this syndrome cerebroaatrophic hyperammonemia, but the elevated ammonia levels in the bloodstream were later found to be only rarely associated with this condition (can Acker, Loncola, & Can Acker,

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There is no cure for Rett syndrome. Treatment is directed towards improving function and addressing symptoms. A multi-disciplinary team approach is typically used to treat the person throughout life. This team may include a

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Indeed, based on the canonical anatomofunctional model of basal ganglia, nigrostriatal dopamine is able to modulate the motor loop by acting on dopaminergic receptors located on striatal GABAergic medium spiny neurons.

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Congenital variant (Rolando variant): in this severe subtype of Rett syndrome, the development of the patients and their head circumference are abnormal from birth. The typical gaze of Rett syndrome patients is usually

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The definition itself of the Rett syndrome has been refined over the years: as the atypical forms subsist near to the classical form (Hagberg & Gillberg, 1993), the "Rett Complex" terminology has been introduced.

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The signs and symptoms of the typical form of the Rett syndrome are well described. In addition to the classical form of Rett syndrome, several atypical forms have been described over the years; the main groups are:

5369: 4798: 4783: 337:-like features. In stage III there may be more interest in the surroundings and alertness, attention span, and communication skills may improve. Many girls remain in this stage for most of their lives. 764:

There are certain criteria that must be met for the diagnosis. A blood test can rule in or rule out the presence of the MECP2 mutation, however, this mutation is present in other conditions as well.

632:-deficient mice, authors reported an amelioration of some of the motor deficits previously identified. Altogether, these results argue for an alteration of the nigrostriatal dopaminergic pathway in 4747: 3304:

Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, et al. (1998). "Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex".

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Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, et al. (May 2010). "EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome".

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Hokfelt T, Martensson R, Björklund A, Kleinau S, Goldstein M (1984). "Distribution maps of tyrosine-hydroxylase-immunoreactive neurons in the rat brain". In Björklund A, Hökfelt T (eds.).

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Hokfelt T, Martensson R, Bjorklund A, Kleinau S, Goldstein M (1984). "Distribution maps of tyrosine-hydroxylase-immunoreactive neurons in the rat brain". In Bjorklund A, Hokfelt T (eds.).

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Panayotis N, Pratte M, Borges-Correia A, Ghata A, Villard L, Roux JC (2011). "Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse".

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Renieri A, Mari F, Mencarelli M, Scala E, Ariani F, Longo I, et al. (March 2009). "Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)".

597:-null mice show motor abnormalities from postnatal day 30 that worsen until death. These models offer a crucial substrate to elucidate the molecular and neuroanatomical correlates of 6007: 1480: 1111:

the low survival of male fetuses with the Rett syndrome-associated MECP2 mutations, and partly to differences between signs caused by MECP2 mutations and those caused by Rett's.

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in the child, almost exclusively from a de novo mutation on the male copy of the X chromosome. It is not yet known what causes the sperm to mutate, and such mutations are rare.

3847: 526:-deficient mice. However, locus coeruleus cells are not dying, but are more likely losing their fully mature phenotype, since no apoptotic neurons in the pons were detected. 2404:

Zoghbi HY, Van Den Veyver RE, Wan IB, Tran M, Francke CQ, Zoghbi U (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2".

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Skjeldal OH, Von Tetzchner S, Jacobsen K, Smith L, Heiberg A (2007). "Rett Syndrome - Distribution of Phenotypes with Special Attention to the Preserved Speech Variant".

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have also been found to resemble it. Rett syndrome is initially diagnosed by clinical observation, and is commonly associated with a genetic defect in the MECP2 gene.

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Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H (1999). "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2".

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Male fetuses with the disorder rarely survive to term. Because the disease-causing gene is located on the X chromosome, a female born with an MECP2 mutation on her X

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Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M (2001). "Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene".

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male fetus is unable to slow the development of the disease, hence the failure of many male fetuses with a MECP2 mutation to survive to term. Males with pathogenic

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Ricceri L, De Filippis B, Laviola G (2008). "Mouse models of Rett syndrome: From behavioural phenotyping to preclinical evaluation of new therapeutic approaches".

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results in CNS dysfunction." The restoration of normal locus coeruleus function may therefore be of potential therapeutic value in the treatment of Rett syndrome.

518:+/-) female mice. Using immunoquantitative techniques, a decrease of Th protein staining level, number of locus coeruleus Th-expressing neurons and density of 733: 4327: 2536:

Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, et al. (1989). "Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome".

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Chen RZ, Akbarian S, Tudor M, Jaenisch R (2001). "Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice".

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Berridge CW, Waterhouse BD (2003). "The locus coeruleus–noradrenergic system: Modulation of behavioral state and state-dependent cognitive processes".

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adding functional MECP2 gene back when they are adults. This information has also helped lead to further studies aiming to treat the disorder.

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Guy J, Hendrich B, Holmes M, Martin JE, Bird A (2001). "A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome".

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gene is necessary for a Rett's-affected embryo to survive in most cases, and the embryo, male or female, must have another X chromosome.

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Zappella M, Gillberg C, Ehlers S (1998). "The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases".

7941: 5476: 3462:"Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities" 1472: 7622: 6535: 6375: 5168: 2742:

Roux JC, Panayotis N, Dura E, Villard L (2009). "Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice".

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A high proportion of deaths are abrupt, but most have no identifiable cause; in some instances death is the result most likely of:

562:(RRF) contain dopaminergic neurons expressing tyrosine hydroxylase (Th, i.e. the rate-limiting enzyme in catecholamine synthesis). 502:. These changes include hyperexcitability and decreased functioning of its noradrenergic innervation. Moreover, a reduction of the 3839: 6830: 6365: 5542: 5359: 4999: 4102: 4354: 287:, and leg braces may also be useful depending on the needs of the child. Many of those with the condition live into middle age. 6982: 6864: 6345: 6018: 5440: 5344: 4387: 2334: 7352: 7097: 6901: 6644: 6620: 6370: 6002: 5497: 3812: 3724: 1365: 373:

Hanefeld variant or early epilepsy variant. In this form of Rett syndrome, the patients have epilepsy before 5 months of age.

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Stage IV, or the late motor deterioration stage, can last for years or decades. Prominent features include reduced mobility,

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Parent A, Hazrati LN (1995). "Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop".

1310: 7956: 7701: 6977: 6555: 6208: 6196: 5658: 5450: 4994: 4603:"Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband" 7926: 7716: 7706: 6820: 5190: 4813: 1634:

Neul Jl, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (Rettsearch Consortium) (2010).

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Traumatic or anoxic/hypoxic brain injury, neurometabolic disease, or severe infection that may better explain symptoms

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Abbeduto L, Ozonoff S, Thurman AJ, McDuffie A, Schweitzer J (18 March 2014). Hales R, Yudofsky S, Robert LW (eds.).

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Jenner P (2009). "Functional models of Parkinson's disease: A valuable tool in the development of novel therapies".

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are prominent during this stage. However, there may be improvement in behavior, with less irritability, crying, and

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deficient female mice have elevated rates of cell death when exposed to DNA damaging agents and are prone to early

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Stage III, or the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years.

675:) with similar affinity, and these dinucleotides account for the majority of MECP2 binding sites in the mammalian 6606: 6249: 6987: 7931: 6929: 6509: 5764: 5740: 5570: 5471: 4098:"Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study" 4040: 6790: 609:

ones) recapitulates a motor symptomatology; it was further documented that brain levels of Th in mice lacking

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Females can live up to 40 years or more. Laboratory studies on Rett syndrome may show abnormalities such as:

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Smeets EE, Julu PO, Waardenburg Dv, Engerström IW, Hansen S, Apartopoulos F, et al. (1 November 2006).

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Björklund A, Lindvall O (1984). "Dopamine-containing systems in the CNS". In Björklund A, Hökfelt T (eds.).

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Huppke P, Held M, Laccone F, Hanefeld F (2003). "The spectrum of phenotypes in females with Rett Syndrome".

6530: 6412: 5786: 4527: 4484: 4393: 4036:"Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome" 1179: 1047: 457:). As stated by Aine Merwick, Margaret O'Brien, and Norman Delanty in an article on gene disorders titled 7792: 7617: 7195: 7168: 7067: 6992: 6886: 6540: 6472: 5922: 5435: 5205: 5070: 1683:

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. (11 July 2008).

1237: 4897: 7891: 7357: 7158: 7062: 6649: 6400: 5950: 5622: 5313: 5278: 5258: 5210: 958: 2206:"Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study" 1095:

Females with a MECP2 mutation, however, have a non-mutant chromosome that provides them enough normal

741:. Some argued against this conclusive assignment because RTT resembles non-autistic disorders such as 7951: 7409: 7022: 6882: 6765: 6545: 6350: 6318: 6292: 6270: 6119: 5698: 5392: 5233: 5125: 4989: 4009: 1100: 1051: 738: 3403: 3165:

Segawa M (2005). "Early motor disturbances in Rett syndrome and its pathophysiological importance".

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De Felice C, Maffei S, Signorini C, Leoncini S, Lunghetti S, Valacchi G, et al. (April 2012).

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Chapter 8. Neurodevelopmental Disorders, The American Psychiatric Publishing Textbook of Psychiatry

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good gross motor function can be observed. The Zappella variant is a milder form of Rett syndrome;

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possible short stature, sometimes with unusual body proportions because of difficulty walking or

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Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (2010).

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that also exhibit autistic features. After research proved the molecular mechanism, in 2013 the

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organization and appears necessary for compacting chromosomes. MECP2 binding to DNA influences

506:(Th) mRNA level, the rate-limiting enzyme in catecholamine synthesis, was detected in the whole 7500: 7239: 7042: 6891: 6849: 6799: 6751: 6693: 6287: 6279: 6234: 5910: 5882: 5730: 5407: 5402: 5349: 5334: 4974: 4964: 3079:

Fitzgerald PM, Jankovic J, Percy AK (1990). "Rett syndrome and associated movement disorders".

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McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, et al. (14 December 2011).

2789:. Classical Transmitters in the CNS, Part l. Vol. 2. New York: Elsevier. pp. 55–122. 2449: 2330:"MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin" 1231: 7799: 7458: 7292: 6874: 6706: 6302: 6176: 5994: 5972: 5887: 5810: 5720: 5707: 5632: 4969: 1063: 1853:

Zappella M (1997). "The preserved speech variant of the Rett complex: A report of 8 cases".

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Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, et al. (2007).

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Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, et al. (2009).

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Neul JL, Zoghbi HY (2004). "Rett Syndrome: A Prototypical Neurodevelopmental Disorder".

2379: 2280: 1556: 1502: 7804: 7721: 7590: 7422: 7324: 7307: 7232: 7032: 6732: 6630: 6338: 6323: 6311: 6061: 6012: 5849: 5712: 5600: 5273: 5080: 4676: 4643: 4580: 4460: 4319: 4197: 4162: 4134: 4097: 4070: 4035: 3961: 3928: 3818: 3765: 3700: 3673: 3649: 3622: 3559: 3504: 3491: 3461: 3442: 3387: 3361:"Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows" 3360: 3337: 3286: 3243: 3190: 3147: 3104: 3061: 3018: 2969: 2926: 2883: 2840: 2767: 2712: 2687: 2665: 2607: 2561: 2518: 2431: 2356: 2329: 2328:

Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, et al. (2001).

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There is no known cure for Rett syndrome. Treatment is directed at improving symptoms.

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The condition affects about 1 in 8,500 females. In 1999, Lebanese-American physician

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in catecholaminergic neurons only are reduced, participating to the motor phenotype.

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Fahmi M, Yasui G, Seki K, Katayama S, Kaneko-Kawano T, Inazu T, et al. (2019).

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Trofinetide was approved for medical use in the United States in March 2023. The US

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is found on an annual screening EKG it is treated with an anti-arrhythmic such as a

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Gerfen CR (2000). "Molecular effects of dopamine on striatal-projection pathways".

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Björklund A, Dunnett SB (2007). "Dopamine neuron systems in the brain: An update".

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Roux JC, Villard L (2009). "Biogenic Amines in Rett Syndrome: The Usual Suspects".

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Impairments in language and coordination, and repetitive movements, slower growth,

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Prior to the discovery of a genetic cause, Rett syndrome had been designated as a

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A girl with Rett Syndrome mouthing her hands, a common behavior with Rett Syndrome

461:, "Rett syndrome affects one in every 12,500 female live births by age 12 years." 7905: 7861: 7835: 7520: 7417: 7387: 7173: 6972: 6919: 6795: 6711: 6517: 6146: 5837: 5518: 5288: 5248: 5120: 4917: 4829: 4053: 3672:

Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM (25 November 2016).

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Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, et al. (2020).

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to survive longer. Research shows that males with Rett syndrome may result from

7742: 7438: 7052: 6967: 6840: 6805: 6737: 6203: 6152: 5980: 5689: 5566: 5364: 5253: 5025: 4840: 4448: 4158: 3674:"Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes" 2828: 1700: 1160: 1131: 1085: 884: 483: 276: 199: 168: 4886: 4792: 4116: 3690: 3639: 3547: 2595: 2055: 7915: 7830: 7782: 7675: 7670: 7649: 7640: 7535: 7510: 7495: 7342: 7149: 6810: 6770: 6698: 6685: 6583: 6578: 6550: 6229: 6181: 6051: 5820: 5776: 5627: 5263: 4717: 4667: 4505: 4418: 4307: 4245: 4188: 4125: 4061: 3952: 3135: 2688:"Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome" 2506: 2229: 2172: 2113: 1831: 750: 547: 4659: 4619: 4602: 4518: 4284:"Management of a severe forceful breather with Rett Syndrome using carbogen" 4221: 3486: 2288: 601:-deficiency. Recently (2008), it was shown that the conditional deletion of 7680: 7665: 7632: 7277: 6657: 5725: 5595: 5578: 4699: 4685: 4628: 4576: 4456: 4315: 4253: 4206: 4167: 4143: 4079: 3970: 3709: 3658: 3604: 3555: 3513: 3438: 3396: 3282: 3239: 3186: 3143: 3057: 3014: 2965: 2922: 2836: 2763: 2721: 2661: 2603: 2514: 2427: 2365: 2306: 2247: 2190: 2131: 1991: 1948: 1903: 1718: 1669: 1612: 1574: 1205: 1190: 976: 918: 893: 869:

markedly impaired use of nonverbal behaviors to regulate social interaction

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in catecholaminergic neurons (by crossing of Th-Cre mice with loxP-flanked

265: 240: 87: 7082: 4725: 3761: 3333: 3100: 3092: 2879: 2686:

Taneja P, Ogier M, Brooks-Harris G, Schmid DA, Katz DM, Nelson SB (2009).

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removed the syndrome altogether from classification as a mental disorder.

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However, the most studied model for the evaluation of therapeutics is the

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are lower in people with Rett syndrome (reviewed in). The genetic loss of

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Genetically, Rett syndrome (RTT) is often caused by mutations in the gene

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Repetitive hand movements such as wringing/squeezing or clapping/tapping

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It can also be inherited from phenotypically normal mothers who have a

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pattern and is seen almost exclusively in females, as most males die

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Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H (2017).

3230: 2263:"Reversal of Neurological Defects in a Mouse Model of Rett Syndrome" 799:

Abnormal psychomotor development during the first six months of life

52: 7612: 7378: 7287: 7217: 7153: 7144: 6380:

Spinal muscular atrophy with lower extremity predominance (SMALED)

6085: 6077: 6043: 5897: 5800: 5195: 5135: 4892: 4554: 2347: 1210: 1174: 1041: 1037: 1030: 939: 660: 543: 427: 334: 244: 99: 4163:"Rett syndrome: a neurological disorder with metabolic components" 3725:"Is Rett syndrome a subtype of pervasive developmental disorders?" 3533: 3325: 3274: 3221: 2419: 1774: 1685:"FOXG1 is Responsible for the Congenital Variant of Rett Syndrome" 1604: 7866: 7185: 5564: 4600: 4504:

This article incorporates text from this source, which is in the

4417:

This article incorporates text from this source, which is in the

3929:"The relationship of Rett syndrome and MECP2 disorders to autism" 2799: 2624: 1096: 944: 330: 326: 4818: 4219: 636:-deficient animals as a contributor of the neuromotor deficits. 7840: 7585: 7540: 7505: 7382: 7297: 7259: 6124: 5865: 5832: 4940: 4787: 4349: 4347: 4345: 4281: 2203: 1924: 913: 849: 676: 546:

in the mammalian brain is synthesized by nuclei located in the

444: 164: 4382: 4380: 3799:(6 ed.). Arlington, VA: American Psychiatric Publishing. 3794: 2685: 2087: 1633: 1013: 6943: 3623:"The Molecular Functions of MeCP2 in Rett Syndrome Pathology" 2327: 2090:"Rett Syndrome: Revised Diagnostic Criteria and Nomenclature" 2013:

Gillberg d (1997). "Communication in Rett syndrome complex".

1636:"Rett syndrome: Revised diagnostic criteria and nomenclature" 1103:, in which the male has an XXY karyotype. Thus, a non-mutant 754: 652: 454: 435: 396: 392: 387: 260: 134: 46:), dementia, ataxia, and loss of purposeful hand use syndrome 4342: 1088:, unless they have one or more extra X chromosomes, or have 971:

Because of the increased risk of sudden cardiac death, when

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In accordance with the motor spectrum of the RTT phenotype,

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Zappella M (1992). "The rett girls with preserved speech".

1682: 1084:

mutations usually die within the first 2 years from severe

507: 494:, the exclusive source of noradrenergic innervation to the 3459: 2944:

Lees AJ, Hardy J, Revesz T (2009). "Parkinson's disease".

1881: 4909: 3671: 3416: 3260: 2535: 2478: 1969: 1590: 469: 7596:

Pervasive developmental disorder not otherwise specified

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Pervasive developmental disorder not otherwise specified

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National Institute of Neurological Disorders and Stroke

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Girl with Rett syndrome with stereotyped hand movements

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Molecular functions of MECP2 in Rett syndrome pathology

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In at least 95% of Rett syndrome cases, the cause is a

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The location of the gene responsible for Rett syndrome

7889: 4596: 4594: 4222:"Subclinical myocardial dysfunction in Rett syndrome" 1029:

used for the treatment of Rett syndrome. It is taken

734:

Diagnostic and Statistical Manual of Mental Disorders

537: 4765: 3355:

Cheval H, Guy J, Merusi C, De Sousa D, Selfridge J,

2380:"Rett Syndrome - Symptoms, Causes, Treatment | NORD" 3303: 2260: 1197:discovered the mutation that causes the condition. 522:surrounding the structure was shown in symptomatic 294:discovered the mutation that causes the condition. 4591: 2639: 2261:Guy J, Gan J, Selfridge J, Cobb S, Bird A (2007). 258:Rett syndrome is due to a genetic mutation in the 2784: 921:in some - abnormally small head, poor head growth 477: 7913: 4388:"FDA approves first treatment for Rett Syndrome" 4156: 2986: 2814: 883:Signs of Rett syndrome that are also present in 6686:Danon disease/glycogen storage disease Type IIb 3873:"About Rett syndrome - Rett Syndrome Diagnosis" 3466:Proceedings of the National Academy of Sciences 2943: 1507:NORD (National Organization for Rare Disorders) 1271:"Rett Syndrome: Coming to Terms with Treatment" 936:- spasmodic movements of hand or facial muscles 4226:European Heart Journal: Cardiovascular Imaging 3616: 3614: 639:There is an association of Rett syndrome with 7098: 6791:Color blindness (red and green, but not blue) 6776:Alpha-thalassemia mental retardation syndrome 6480: 5550: 4925: 4641: 3732:Journal of Autism and Developmental Disorders 2857: 2044:Journal of Autism and Developmental Disorders 1817: 777:Decreased or loss of use of fine motor skills 514:-null male as well as in adult heterozygous ( 255:. The severity of the condition is variable. 243:. Complications of Rett syndrome can include 6676:Glucose-6-phosphate dehydrogenase deficiency 3620: 3579:"The Ups and Downs of BDNF in Rett Syndrome" 3529: 3527: 3525: 3523: 2481:"Complex single gene disorders and epilepsy" 1818:Sørensen E, Viken B (20 February 1995). "". 1149:decreased levels of CSF nerve growth factors 7112: 6269: 3903:"Seven Disorders Closely Related to Autism" 3716: 3611: 2581: 2151:International Journal of Molecular Sciences 983:may be more effective than a beta-blocker. 848:Signs of Rett syndrome that are similar to 687:events. MECP2 also appears to function in 659:gene binds to DNA with a high affinity for 7105: 7091: 6487: 6473: 5557: 5543: 5477:Ritvo Autism and Asperger Diagnostic Scale 4932: 4918: 3985:"Rett Syndrome | Rady Children's Hospital" 3879:. International Rett Syndrome Foundation. 3121: 2577: 2575: 2016:European Child & Adolescent Psychiatry 1856:European Child & Adolescent Psychiatry 1586: 1584: 1467: 1465: 1463: 1461: 1459: 1457: 1455: 1453: 1451: 1449: 1447: 1445: 1443: 1441: 1439: 1437: 1435: 1433: 1431: 1429: 1427: 1425: 1423: 1421: 1419: 1417: 1415: 1413: 1411: 1409: 1407: 1405: 1403: 1352: 1350: 1348: 1036:The most common adverse reactions include 702: 459:Complex single gene disorders and epilepsy 7623:Social (pragmatic) communication disorder 6536:X-linked severe combined immunodeficiency 5169:Avoidant/restrictive food intake disorder 4675: 4618: 4196: 4133: 4115: 4069: 3960: 3751: 3699: 3689: 3648: 3638: 3594: 3520: 3503: 3485: 3386: 3229: 3004: 2711: 2681: 2679: 2496: 2355: 2296: 2237: 2180: 2162: 2121: 1708: 1659: 1564: 1534: 1532: 1530: 1528: 1401: 1399: 1397: 1395: 1393: 1391: 1389: 1387: 1385: 1383: 1346: 1344: 1342: 1340: 1338: 1336: 1334: 1332: 1330: 1328: 1286: 1025:, sold under the brand name Daybue, is a 843: 438:. In these cases, inheritance follows an 7491:Basic interpersonal communicative skills 5174:Attention deficit hyperactivity disorder 4692: 2633: 2479:Merwick A, O'Brien M, Delanty N (2012). 2012: 1852: 1731: 1062: 1012: 839:Intense eye communication (eye pointing) 718: 709:interactive pathway map of Rett syndrome 468: 7558: 6930:X-linked nephrogenic diabetes insipidus 6855:Hypohidrotic ectodermal dysplasia (EDA) 5360:Multiple complex developmental disorder 4103:Journal of Neurodevelopmental Disorders 2737: 2735: 2733: 2731: 2618: 2572: 1820:Tidsskrift for den Norske Laegeforening 1581: 1541:"The American History of Rett Syndrome" 1495: 833:Inappropriate laughing/screaming spells 490:changes the properties of cells in the 211:Life expectancy for many is middle age. 7947:Syndromes affecting the nervous system 7914: 6865:X-linked endothelial corneal dystrophy 6508: 6494: 6346:Distal hereditary motor neuronopathies 6019:Template:Demyelinating diseases of CNS 5441:Autism Diagnostic Observation Schedule 3164: 3035: 2900: 2676: 2335:The American Journal of Human Genetics 1689:The American Journal of Human Genetics 1525: 1380: 1325: 1254:from the original on 5 November 2017. 1213:for adult females with Rett Syndrome. 221:Lethal in males, with rare exceptions. 7557: 7479: 7353:High-context and low-context cultures 7124: 7086: 7010: 7009: 6821:Charcot–Marie–Tooth disease (CMTX2-3) 6645:Ornithine transcarbamylase deficiency 6621:X-linked adrenal hypoplasia congenita 6507: 6468: 5538: 4913: 4277: 4275: 4260:from the original on 29 November 2021 4091: 4089: 3867: 3865: 3863: 3861: 3859: 3857: 3850:from the original on 30 October 2017. 3834: 3832: 3805:10.1176/appi.books.9781585625031.rh08 3576: 2083: 2081: 1538: 1513:from the original on 19 February 2017 1268: 1233:Handbook of Pediatric Neuropsychology 1229: 679:. MECP2 is involved in higher order 421: 406: 297: 7702:Computer processing of body language 7480: 6556:X-linked lymphoproliferative disease 6526:Chronic granulomatous disease (CYBB) 6197:Idiopathic intracranial hypertension 5586: 4698: 4536:from the original on 10 January 2024 4430: 3926: 3883:from the original on 29 October 2017 3722: 2728: 1483:from the original on 14 October 2017 1368:from the original on 14 October 2017 1313:from the original on 4 December 2020 866:lack of social/emotional reciprocity 7717:List of facial expression databases 7707:Emotion recognition in conversation 6902:Emery–Dreifuss muscular dystrophy 1 5191:Developmental coordination disorder 4644:"Cardiac disease and Rett syndrome" 4330:from the original on 1 October 2022 3840:"Rett syndrome Tests and diagnosis" 3776:from the original on 29 August 2021 1557:10.1016/j.pediatrneurol.2013.08.018 279:may be used to help with seizures. 13: 7937:Neurological disorders in children 6611:Spinal and bulbar muscular atrophy 6428:Infantile progressive bulbar palsy 4750:from the original on 30 March 2022 4607:European Journal of Human Genetics 4402:from the original on 13 March 2023 4272: 4086: 3933:Dialogues in Clinical Neuroscience 3854: 3829: 2078: 991:be used while the child is awake. 780:Decreased or loss of verbal speech 651:As reviewed by Sharifi and Yasui, 538:Midbrain dopaminergic disturbances 14: 7968: 7942:Pervasive developmental disorders 7601:Childhood disintegrative disorder 6681:Pyruvate dehydrogenase deficiency 6131:Template:Cerebrovascular diseases 5934:Frontotemporal lobar degeneration 5451:Gilliam Asperger's disorder scale 5269:Fetal valproate spectrum disorder 5041:Childhood disintegrative disorder 4705:Wiener Medizinische Wochenschrift 3678:Orphanet Journal of Rare Diseases 2802:Handbook of Chemical Neuroanatomy 2787:Handbook of Chemical Neuroanatomy 2627:Handbook of Chemical Neuroanatomy 2460:from the original on 27 July 2016 1157:spontaneous brainstem dysfunction 1121:abnormalities from 2 years of age 907:delayed or absent ability to walk 821:Peripheral vasomotor disturbances 809:Breathing disturbances when awake 641:brain-derived neurotrophic factor 173:Childhood disintegrative disorder 7899: 6761:X-linked intellectual disability 6151:For more detailed coverage, see 6129:For more detailed coverage, see 6100:For more detailed coverage, see 6066:For more detailed coverage, see 6017:For more detailed coverage, see 5021:Pervasive developmental disorder 4648:Archives of Disease in Childhood 4642:Acampa M, Guideri F (May 2006). 4499: 4412: 4365:from the original on 2 July 2023 3402: 2744:Journal of Neuroscience Research 2498:10.1111/j.1528-1167.2012.03617.x 1005:This section is an excerpt from 729:pervasive developmental disorder 51: 42:Cerebroatrophic hyperammonemia ( 6607:Androgen insensitivity syndrome 4732: 4635: 4548: 4519:New Drug Therapy Approvals 2023 4511: 4479:"Drug Trials Snapshots: Daybue" 4213: 4150: 4027: 4002: 3977: 3920: 3895: 3788: 3665: 3570: 3453: 3410: 3348: 3297: 3254: 3201: 3158: 3115: 3072: 3029: 2987:Dauer W, Przedborski S (2003). 2980: 2937: 2894: 2851: 2808: 2793: 2778: 2529: 2472: 2442: 2397: 2372: 2321: 2254: 2197: 2138: 2035: 2006: 1963: 1918: 1875: 1846: 1811: 1768: 1725: 1676: 530:critical site at which loss of 7125: 6983:Simpson–Golabi–Behmel syndrome 5472:Childhood Autism Spectrum Test 4355:"Daybue- trofinetide solution" 4300:10.1016/j.braindev.2006.04.010 4041:Science Translational Medicine 3179:10.1016/j.braindev.2004.11.010 2704:10.1523/JNEUROSCI.3156-09.2009 1896:10.1016/j.braindev.2008.04.007 1627: 1295: 1262: 1223: 999: 994: 979:. There is some evidence that 478:Pontine noradrenergic deficits 451:cyclin-dependent kinase-like 5 430:mutation in the gene encoding 1: 6952:AMELX Amelogenesis imperfecta 6892:Centronuclear myopathy (MTM1) 6589:X-linked sideroblastic anemia 6444:Amyotrophic lateral sclerosis 6329:Hereditary spastic paraplegia 6187:Normal pressure hydrocephalus 5446:Childhood Autism Rating Scale 5294:PTEN hamartoma tumor syndrome 5184:obsessive–compulsive disorder 5116:Pathological demand avoidance 5000:Societal and cultural aspects 4433:"Trofinetide: First Approval" 4010:"Cerebral Palsy Misdiagnosis" 3945:10.31887/DCNS.2012.14.3/jneul 3006:10.1016/S0896-6273(03)00568-3 2958:10.1016/S0140-6736(09)60492-X 2915:10.1016/S1471-1931(00)00019-7 2654:10.1016/S0165-0173(03)00143-7 1984:10.1016/S0387-7604(03)00018-4 1746:10.1016/S0387-7604(12)80094-5 1216: 6978:Smith–Fineman–Myers syndrome 6826:Pelizaeus–Merzbacher disease 6720:Purine–pyrimidine metabolism 6413:Progressive muscular atrophy 4528:Food and Drug Administration 4485:Food and Drug Administration 4394:Food and Drug Administration 4054:10.1126/scitranslmed.3002982 3621:Sharifi O, Yasui DH (2021). 3596:10.1016/j.neuron.2006.01.014 3431:10.1097/FBP.0b013e32830c3645 2872:10.1016/0165-0173(94)00007-C 1941:10.1016/j.clinph.2010.01.003 1230:Davis AS (25 October 2010). 1211:investigational gene therapy 1058: 1048:Food and Drug Administration 952: 714: 464: 432:methyl-CpG-binding protein-2 320: 7: 7957:X-linked dominant disorders 7618:Nonverbal learning disorder 7196:Speech-independent gestures 7169:Facial Action Coding System 7068:Craniofrontonasal dysplasia 6993:Nasodigitoacoustic syndrome 6541:X-linked agammaglobulinemia 5923:Primary progressive aphasia 5436:Autism Diagnostic Interview 5206:Sensory processing disorder 5071:Autism and LGBTQ identities 1238:Springer Publishing Company 1200: 1050:(FDA) considers it to be a 836:Diminished response to pain 352: 340: 311: 177:neurodegenerative disorders 10: 7973: 7927:Disorders causing seizures 7358:Interpersonal relationship 7159:Body-to-body communication 7063:Orofaciodigital syndrome 1 6897:Conradi–Hünermann syndrome 6650:Oculocerebrorenal syndrome 6245:Hashimoto's encephalopathy 5951:Posterior cortical atrophy 5772:Striatonigral degeneration 5623:Cavernous sinus thrombosis 5314:Tuberous sclerosis complex 5304:Smith–Lemli–Opitz syndrome 5279:MECP2 duplication syndrome 5259:Cornelia de Lange syndrome 5211:Global developmental delay 4939: 4449:10.1007/s40265-023-01883-8 2829:10.1016/j.tins.2007.03.006 1701:10.1016/j.ajhg.2008.05.015 1473:"Rett Syndrome Fact Sheet" 1185: 1004: 959:Treatment of Rett syndrome 956: 910:gait/movement difficulties 554:pars compacta (SNpc), the 302: 18: 7849: 7823: 7763: 7756: 7730: 7694: 7658: 7631: 7568: 7564: 7553: 7486: 7475: 7431: 7408: 7371: 7323: 7258: 7137: 7133: 7120: 7023:X-linked hypophosphatemia 7018: 7005: 6960: 6938: 6910: 6883:Becker muscular dystrophy 6873: 6839: 6750: 6629: 6597: 6569: 6546:Hyper-IgM syndrome type 1 6516: 6503: 6351:Spinal muscular atrophies 6319:Primary lateral sclerosis 6301: 6278: 6262: 6217: 6177:Intracranial hypertension 6167: 6139: 6110: 6076: 6038: 6027: 5993: 5971: 5957:Creutzfeldt–Jakob disease 5896: 5706: 5697: 5683: 5643: 5577: 5511: 5485: 5459: 5428: 5393:Facilitated communication 5383: 5327: 5234:22q11.2 deletion syndrome 5224: 5159: 5056: 5013: 4947: 4850: 4769: 4702:(10 September 1966). "". 4238:10.1093/ejechocard/jer256 4117:10.1186/s11689-017-9196-7 3907:Autism Research Institute 3691:10.1186/s13023-016-0545-5 3640:10.3389/fgene.2021.624290 3548:10.1016/j.nbd.2010.10.006 2596:10.1007/s10519-009-9303-y 1052:first-in-class medication 924:gastrointestinal problems 830:Small cold hands and feet 783:Abnormalities during gait 739:autism spectrum disorders 737:(DSM), together with the 667:. MECP2 can bind to 5mc ( 215: 205: 193: 182: 154: 141: 129: 121: 113: 93: 80: 64: 60:A girl with Rett syndrome 59: 50: 38: 33: 7773:Behavioral communication 6988:Mohr–Tranebjærg syndrome 6531:Wiskott–Aldrich syndrome 6418:Progressive bulbar palsy 6209:Intracranial hypotension 6192:Choroid plexus papilloma 5606:Herpesviral encephalitis 5467:Autism-spectrum quotient 5284:Neurofibromatosis type I 4532:(Report). January 2024. 3419:Behavioural Pharmacology 3366:Human Molecular Genetics 3136:10.1177/1073858403260995 1928:Clinical Neurophysiology 1539:Percy A (January 2014). 1275:Advances in Neuroscience 863:avoidance of eye contact 661:CpG methylated DNA sites 655:protein, encoded by the 381: 117:After 6–18 months of age 19:Not to be confused with 7922:Communication disorders 7213:Interpersonal synchrony 7114:Nonverbal communication 7028:Focal dermal hypoplasia 6742:Occipital horn syndrome 6671:Carbohydrate metabolism 5930:Frontotemporal dementia 5616:Encephalitis lethargica 5398:Lancet MMR autism fraud 5340:Critical autism studies 5239:22q13 deletion syndrome 5201:Intellectual disability 5151:Emotional dysregulation 5048:High-functioning autism 4887:MECP2-Related Disorders 4660:10.1136/adc.2005.090290 4620:10.1038/sj.ejhg.5201911 4014:Cerebral Palsy Guidance 3536:Neurobiology of Disease 3487:10.1073/pnas.0912257106 2903:Trends in Neurosciences 2817:Trends in Neurosciences 2692:Journal of Neuroscience 2454:Genetics Home Reference 2289:10.1126/science.1138389 2056:10.1023/A:1026052128305 1362:Genetics Home Reference 1169:ventricular tachycardia 1130:elevated CSF levels of 1076:MECP2 mutation, the XY 703:Interactive pathway map 673:5-hydroxymethylcytosine 189:, physiotherapy, braces 7810:Monastic sign lexicons 7501:Emotional intelligence 7043:Incontinentia pigmenti 6850:Dyskeratosis congenita 6694:Lipid storage disorder 6616:KAL1 Kallmann syndrome 6235:Hepatic encephalopathy 5408:Rapid prompting method 5350:Double empathy problem 5335:Autism rights movement 2860:Brain Research Reviews 2642:Brain Research Reviews 1101:Klinefelter's syndrome 1068: 1017: 966:primary care physician 844:Differential diagnosis 815:Impaired sleep pattern 724: 556:ventral tegmental area 520:dendritic arborization 474: 347:curvature of the spine 329:, motor problems, and 156:Differential diagnosis 16:Genetic brain disorder 7932:Learning disabilities 7800:Impression management 6766:Coffin–Lowry syndrome 6707:Mucopolysaccharidosis 6293:Ataxia–telangiectasia 6250:Static encephalopathy 5973:Mitochondrial disease 5811:Spasmodic torticollis 5721:Basal ganglia disease 5493:Autism-related topics 5057:Associated conditions 4744:Taysha Gene Therapies 4431:Keam SJ (June 2023). 4288:Brain and Development 3627:Frontiers in Genetics 3577:Sun YE, Wu H (2006). 3167:Brain and Development 3093:10.1002/mds.870050303 2989:"Parkinson's Disease" 2550:10.1002/ana.410250109 1972:Brain and Development 1884:Brain and Development 1789:10.1055/s-2007-979732 1734:Brain and Development 1066: 1016: 898:difficulty swallowing 722: 472: 7815:Verbal communication 7768:Animal communication 7686:Targeted advertising 7203:Haptic communication 7058:Lujan–Fryns syndrome 6725:Lesch–Nyhan syndrome 6663:Adrenoleukodystrophy 6561:Properdin deficiency 6240:Toxic encephalopathy 5946:Lewy bodies dementia 5498:Fictional characters 5226:Associated syndromes 4569:10.1055/s-2001-16620 2909:(10 Suppl): S64–70. 2164:10.3390/ijms20225593 1171:or other arrhythmias 818:Abnormal muscle tone 711:has been published. 504:tyrosine hydroxylase 7824:Non-verbal language 7712:Gesture recognition 7559:Further information 7449:Emotion recognition 7400:Silent service code 6860:X-linked ichthyosis 6288:Friedreich's ataxia 5671:Meningoencephalitis 5611:Limbic encephalitis 5375:Violence and autism 5161:Comorbid conditions 4181:10.1098/rsob.170216 3478:2009PNAS..10621966S 3318:1998Natur.393..386N 3038:Annals of Neurology 2538:Annals of Neurology 2281:2007Sci...315.1143G 2210:Annals of Neurology 2094:Annals of Neurology 1640:Annals of Neurology 1545:Pediatric Neurology 1288:10.1155/2014/345270 1180:gastric perforation 947:– grinding of teeth 860:inconsolable crying 812:Bruxism while awake 804:Supportive criteria 624:(totally devoid of 147:Based on symptoms, 71:Pediatric Neurology 7850:Art and literature 7805:Meta-communication 7793:Passive-aggressive 7722:Sentiment analysis 7423:Non-verbal leakage 7033:Fragile X syndrome 6843:and related tissue 6510:X-linked recessive 6324:Pseudobulbar palsy 6062:Status epilepticus 6013:Multiple sclerosis 5850:Myoclonic epilepsy 5713:movement disorders 5659:Acute disseminated 5601:Viral encephalitis 5274:Fragile X syndrome 5081:Autistic catatonia 4851:External resources 4157:Kyle SM, Vashi N, 3744:10.1007/BF01046327 3379:10.1093/hmg/dds208 3124:The Neuroscientist 3081:Movement Disorders 1069: 1018: 827:Growth retardation 824:Scoliosis/kyphosis 747:tuberous sclerosis 743:fragile X syndrome 725: 582:mice developed by 475: 422:Germline mutations 407:Sporadic mutations 298:Signs and symptoms 219:1 in 8,500 females 7887: 7886: 7883: 7882: 7879: 7878: 7875: 7874: 7581:Asperger syndrome 7549: 7548: 7531:Social competence 7471: 7470: 7467: 7466: 7273:Emotional prosody 7179:Subtle expression 7164:Facial expression 7080: 7079: 7076: 7075: 7012:X-linked dominant 7001: 7000: 6961:No primary system 6462: 6461: 6458: 6457: 6454: 6453: 6258: 6257: 6163: 6162: 6102:Template:Headache 6068:Template:Epilepsy 5989: 5988: 5963:Vascular dementia 5806:Status dystonicus 5679: 5678: 5654:Encephalomyelitis 5532: 5531: 5429:Diagnostic scales 5319:Williams syndrome 5244:Angelman syndrome 5126:Special interests 5091:Autistic meltdown 5031:Asperger syndrome 4907: 4906: 4398:. 13 March 2023. 4361:. 29 March 2023. 4161:(February 2018). 4048:(113): 113ra125. 3814:978-1-58562-444-7 3050:10.1002/ana.21489 2952:(9680): 2055–66. 2756:10.1002/jnr.22312 2584:Behavior Genetics 2222:10.1002/ana.25797 2106:10.1002/ana.22124 2023:(Suppl 1): 21–2. 1863:(Suppl 1): 23–5. 1652:10.1002/ana.22124 1364:. December 2013. 1307:meshb.nlm.nih.gov 1090:somatic mosaicism 588:Katelyn McCormick 560:retrorubral field 440:X-linked dominant 281:Special education 253:sleeping problems 241:smaller head size 225: 224: 187:Special education 161:Angelman syndrome 143:Diagnostic method 108:sleeping problems 28:Medical condition 21:Tourette syndrome 7964: 7952:Syndromic autism 7904: 7903: 7902: 7895: 7761: 7760: 7738:Ray Birdwhistell 7566: 7565: 7555: 7554: 7481:Broader concepts 7477: 7476: 7454:First impression 7135: 7134: 7122: 7121: 7107: 7100: 7093: 7084: 7083: 7038:Aicardi syndrome 7007: 7006: 6505: 6504: 6489: 6482: 6475: 6466: 6465: 6276: 6275: 6267: 6266: 6225:Brain herniation 6036: 6035: 5876:Intention tremor 5871:Essential tremor 5736:Postencephalitic 5704: 5703: 5695: 5694: 5584: 5583: 5565:Diseases of the 5559: 5552: 5545: 5536: 5535: 5524:Sensory friendly 5460:Screening scales 5309:Timothy syndrome 5216:Verbal Dyspraxia 5179:Anxiety disorder 5111:Nonverbal autism 5086:Autistic masking 5076:Autistic burnout 4934: 4927: 4920: 4911: 4910: 4767: 4766: 4760: 4759: 4757: 4755: 4736: 4730: 4729: 4696: 4690: 4689: 4679: 4639: 4633: 4632: 4622: 4598: 4589: 4588: 4552: 4546: 4545: 4543: 4541: 4523: 4515: 4509: 4503: 4502: 4498: 4496: 4494: 4475: 4469: 4468: 4428: 4422: 4416: 4415: 4411: 4409: 4407: 4384: 4375: 4374: 4372: 4370: 4351: 4340: 4339: 4337: 4335: 4279: 4270: 4269: 4267: 4265: 4217: 4211: 4210: 4200: 4154: 4148: 4147: 4137: 4119: 4093: 4084: 4083: 4073: 4031: 4025: 4024: 4022: 4020: 4006: 4000: 3999: 3997: 3995: 3981: 3975: 3974: 3964: 3927:Neul JL (2012). 3924: 3918: 3917: 3915: 3913: 3899: 3893: 3892: 3890: 3888: 3877:rettsyndrome.org 3869: 3852: 3851: 3836: 3827: 3826: 3792: 3786: 3785: 3783: 3781: 3755: 3729: 3723:Tsai LY (1992). 3720: 3714: 3713: 3703: 3693: 3669: 3663: 3662: 3652: 3642: 3618: 3609: 3608: 3598: 3574: 3568: 3567: 3531: 3518: 3517: 3507: 3489: 3472:(51): 21966–71. 3457: 3451: 3450: 3414: 3408: 3407: 3406: 3400: 3390: 3352: 3346: 3345: 3301: 3295: 3294: 3258: 3252: 3251: 3233: 3205: 3199: 3198: 3162: 3156: 3155: 3119: 3113: 3112: 3076: 3070: 3069: 3033: 3027: 3026: 3008: 2984: 2978: 2977: 2941: 2935: 2934: 2898: 2892: 2891: 2855: 2849: 2848: 2812: 2806: 2805: 2797: 2791: 2790: 2782: 2776: 2775: 2739: 2726: 2725: 2715: 2698:(39): 12187–95. 2683: 2674: 2673: 2637: 2631: 2630: 2622: 2616: 2615: 2579: 2570: 2569: 2533: 2527: 2526: 2500: 2476: 2470: 2469: 2467: 2465: 2446: 2440: 2439: 2401: 2395: 2394: 2392: 2390: 2384:rarediseases.org 2376: 2370: 2369: 2359: 2325: 2319: 2318: 2300: 2275:(5815): 1143–7. 2258: 2252: 2251: 2241: 2201: 2195: 2194: 2184: 2166: 2142: 2136: 2135: 2125: 2085: 2076: 2075: 2039: 2033: 2032: 2010: 2004: 2003: 1967: 1961: 1960: 1922: 1916: 1915: 1879: 1873: 1872: 1850: 1844: 1843: 1822:(in Norwegian). 1815: 1809: 1808: 1772: 1766: 1765: 1729: 1723: 1722: 1712: 1680: 1674: 1673: 1663: 1631: 1625: 1624: 1588: 1579: 1578: 1568: 1536: 1523: 1522: 1520: 1518: 1499: 1493: 1492: 1490: 1488: 1469: 1378: 1377: 1375: 1373: 1354: 1323: 1322: 1320: 1318: 1299: 1293: 1292: 1290: 1269:Percy A (2014). 1266: 1260: 1259: 1227: 1165:long QT syndrome 1163:, likely due to 973:long QT syndrome 878:sleep regression 875:sensory problems 669:5-methylcytosine 552:substantia nigra 542:The majority of 482:Brain levels of 236:genetic disorder 133:Mutation in the 75:Medical Genetics 55: 31: 30: 7972: 7971: 7967: 7966: 7965: 7963: 7962: 7961: 7912: 7911: 7910: 7900: 7898: 7890: 7888: 7871: 7862:Mimoplastic art 7845: 7836:Tactile signing 7819: 7752: 7726: 7690: 7654: 7627: 7560: 7545: 7521:Social behavior 7482: 7463: 7427: 7418:Microexpression 7404: 7388:One-bit message 7367: 7319: 7254: 7174:Microexpression 7129: 7116: 7111: 7081: 7072: 7014: 6997: 6973:McLeod syndrome 6956: 6934: 6920:Alport syndrome 6906: 6869: 6835: 6796:Ocular albinism 6746: 6712:Hunter syndrome 6625: 6593: 6565: 6512: 6499: 6493: 6463: 6450: 6376:Congenital DSMA 6297: 6254: 6213: 6159: 6147:Sleep disorders 6135: 6112:Cerebrovascular 6106: 6072: 6029: 6023: 5985: 5967: 5892: 5838:Choreoathetosis 5711: 5688: 5675: 5639: 5573: 5563: 5533: 5528: 5519:Autism-friendly 5507: 5481: 5455: 5424: 5379: 5323: 5289:Noonan syndrome 5249:CHARGE syndrome 5220: 5155: 5121:Savant syndrome 5058: 5052: 5009: 4990:Pathophysiology 4943: 4938: 4908: 4903: 4902: 4846: 4845: 4778: 4764: 4763: 4753: 4751: 4738: 4737: 4733: 4712:(37): 723–726. 4697: 4693: 4640: 4636: 4613:(12): 1218–29. 4599: 4592: 4557:Neuropediatrics 4553: 4549: 4539: 4537: 4521: 4517: 4516: 4512: 4500: 4492: 4490: 4489:. 12 March 2023 4477: 4476: 4472: 4429: 4425: 4413: 4405: 4403: 4386: 4385: 4378: 4368: 4366: 4353: 4352: 4343: 4333: 4331: 4294:(10): 625–632. 4280: 4273: 4263: 4261: 4218: 4214: 4155: 4151: 4094: 4087: 4032: 4028: 4018: 4016: 4008: 4007: 4003: 3993: 3991: 3983: 3982: 3978: 3925: 3921: 3911: 3909: 3901: 3900: 3896: 3886: 3884: 3871: 3870: 3855: 3838: 3837: 3830: 3815: 3793: 3789: 3779: 3777: 3727: 3721: 3717: 3670: 3666: 3619: 3612: 3575: 3571: 3532: 3521: 3458: 3454: 3425:(5–6): 501–17. 3415: 3411: 3401: 3373:(17): 3806–14. 3353: 3349: 3312:(6683): 386–9. 3302: 3298: 3263:Nature Genetics 3259: 3255: 3210:Nature Genetics 3206: 3202: 3163: 3159: 3120: 3116: 3077: 3073: 3034: 3030: 2985: 2981: 2942: 2938: 2899: 2895: 2856: 2852: 2813: 2809: 2798: 2794: 2783: 2779: 2740: 2729: 2684: 2677: 2638: 2634: 2623: 2619: 2580: 2573: 2534: 2530: 2477: 2473: 2463: 2461: 2450:"Rett syndrome" 2448: 2447: 2443: 2407:Nature Genetics 2402: 2398: 2388: 2386: 2378: 2377: 2373: 2342:(5): 1093–101. 2326: 2322: 2259: 2255: 2202: 2198: 2143: 2139: 2086: 2079: 2040: 2036: 2011: 2007: 1968: 1964: 1923: 1919: 1880: 1876: 1851: 1847: 1816: 1812: 1777:Neuropediatrics 1773: 1769: 1730: 1726: 1681: 1677: 1632: 1628: 1593:Nature Genetics 1589: 1582: 1537: 1526: 1516: 1514: 1503:"Rett Syndrome" 1501: 1500: 1496: 1486: 1484: 1471: 1470: 1381: 1371: 1369: 1358:"Rett syndrome" 1356: 1355: 1326: 1316: 1314: 1301: 1300: 1296: 1267: 1263: 1248: 1240:. p. 703. 1228: 1224: 1219: 1203: 1188: 1124:atypical brain 1061: 1056: 1055: 1010: 1002: 997: 961: 955: 950: 881: 846: 717: 705: 649: 540: 496:cerebral cortex 492:locus coeruleus 480: 467: 424: 409: 384: 355: 343: 323: 314: 305: 300: 277:Anticonvulsants 270:genetic testing 220: 200:Anticonvulsants 149:genetic testing 29: 24: 17: 12: 11: 5: 7970: 7960: 7959: 7954: 7949: 7944: 7939: 7934: 7929: 7924: 7909: 7908: 7885: 7884: 7881: 7880: 7877: 7876: 7873: 7872: 7870: 7869: 7864: 7859: 7853: 7851: 7847: 7846: 7844: 7843: 7838: 7833: 7827: 7825: 7821: 7820: 7818: 7817: 7812: 7807: 7802: 7797: 7796: 7795: 7790: 7785: 7780: 7770: 7764: 7758: 7754: 7753: 7751: 7750: 7745: 7743:Charles Darwin 7740: 7734: 7732: 7728: 7727: 7725: 7724: 7719: 7714: 7709: 7704: 7698: 7696: 7692: 7691: 7689: 7688: 7683: 7678: 7673: 7668: 7662: 7660: 7656: 7655: 7653: 7652: 7647: 7637: 7635: 7629: 7628: 7626: 7625: 7620: 7615: 7610: 7609: 7608: 7603: 7598: 7593: 7588: 7583: 7572: 7570: 7562: 7561: 7551: 7550: 7547: 7546: 7544: 7543: 7538: 7533: 7528: 7523: 7518: 7513: 7508: 7503: 7498: 7493: 7487: 7484: 7483: 7473: 7472: 7469: 7468: 7465: 7464: 7462: 7461: 7456: 7451: 7446: 7441: 7439:Affect display 7435: 7433: 7429: 7428: 7426: 7425: 7420: 7414: 7412: 7406: 7405: 7403: 7402: 7397: 7396: 7395: 7385: 7375: 7373: 7369: 7368: 7366: 7365: 7360: 7355: 7350: 7345: 7340: 7335: 7329: 7327: 7325:Social context 7321: 7320: 7318: 7317: 7316: 7315: 7310: 7305: 7300: 7295: 7290: 7285: 7275: 7270: 7264: 7262: 7256: 7255: 7253: 7252: 7247: 7242: 7237: 7236: 7235: 7233:Pupil dilation 7230: 7220: 7215: 7210: 7205: 7200: 7199: 7198: 7193: 7183: 7182: 7181: 7176: 7171: 7161: 7156: 7147: 7141: 7139: 7131: 7130: 7118: 7117: 7110: 7109: 7102: 7095: 7087: 7078: 7077: 7074: 7073: 7071: 7070: 7065: 7060: 7055: 7053:CHILD syndrome 7050: 7045: 7040: 7035: 7030: 7025: 7019: 7016: 7015: 7003: 7002: 6999: 6998: 6996: 6995: 6990: 6985: 6980: 6975: 6970: 6968:Barth syndrome 6964: 6962: 6958: 6957: 6955: 6954: 6948: 6946: 6936: 6935: 6933: 6932: 6927: 6925:Dent's disease 6922: 6916: 6914: 6908: 6907: 6905: 6904: 6899: 6894: 6889: 6879: 6877: 6871: 6870: 6868: 6867: 6862: 6857: 6852: 6846: 6844: 6837: 6836: 6834: 6833: 6828: 6823: 6814: 6813: 6808: 6806:Norrie disease 6803: 6793: 6788:Eye disorders: 6784: 6783: 6778: 6773: 6768: 6756: 6754: 6752:Nervous system 6748: 6747: 6745: 6744: 6738:Menkes disease 6728: 6727: 6715: 6714: 6702: 6701: 6689: 6688: 6683: 6678: 6666: 6665: 6653: 6652: 6647: 6635: 6633: 6627: 6626: 6624: 6623: 6618: 6613: 6603: 6601: 6595: 6594: 6592: 6591: 6586: 6581: 6575: 6573: 6567: 6566: 6564: 6563: 6558: 6553: 6548: 6543: 6538: 6533: 6528: 6522: 6520: 6514: 6513: 6501: 6500: 6492: 6491: 6484: 6477: 6469: 6460: 6459: 6456: 6455: 6452: 6451: 6449: 6448: 6447: 6446: 6435: 6434: 6433: 6432: 6431: 6430: 6425: 6415: 6410: 6409: 6408: 6403: 6398: 6397: 6396: 6391: 6386: 6378: 6373: 6368: 6363: 6358: 6348: 6334: 6333: 6332: 6331: 6326: 6321: 6307: 6305: 6299: 6298: 6296: 6295: 6290: 6284: 6282: 6273: 6264: 6260: 6259: 6256: 6255: 6253: 6252: 6247: 6242: 6237: 6232: 6227: 6221: 6219: 6215: 6214: 6212: 6211: 6206: 6204:Cerebral edema 6201: 6200: 6199: 6194: 6189: 6184: 6173: 6171: 6165: 6164: 6161: 6160: 6158: 6157: 6156: 6155: 6153:Template:Sleep 6143: 6141: 6137: 6136: 6134: 6133: 6127: 6122: 6116: 6114: 6108: 6107: 6105: 6104: 6098: 6093: 6088: 6082: 6080: 6074: 6073: 6071: 6070: 6064: 6059: 6054: 6048: 6046: 6033: 6025: 6024: 6022: 6021: 6015: 6010: 6005: 5999: 5997: 5991: 5990: 5987: 5986: 5984: 5983: 5981:Leigh syndrome 5977: 5975: 5969: 5968: 5966: 5965: 5954: 5953: 5948: 5943: 5942: 5941: 5927: 5926: 5925: 5920: 5919: 5918: 5902: 5900: 5894: 5893: 5891: 5890: 5885: 5880: 5879: 5878: 5873: 5862: 5861: 5860: 5859: 5854: 5853: 5852: 5842: 5841: 5840: 5830: 5825: 5824: 5823: 5818: 5813: 5808: 5792: 5791: 5790: 5789: 5784: 5779: 5774: 5769: 5768: 5767: 5757: 5756: 5755: 5745: 5744: 5743: 5738: 5733: 5717: 5715: 5708:Extrapyramidal 5701: 5692: 5690:encephalopathy 5681: 5680: 5677: 5676: 5674: 5673: 5668: 5663: 5662: 5661: 5650: 5648: 5641: 5640: 5638: 5637: 5636: 5635: 5625: 5620: 5619: 5618: 5613: 5608: 5603: 5592: 5590: 5581: 5575: 5574: 5567:nervous system 5562: 5561: 5554: 5547: 5539: 5530: 5529: 5527: 5526: 5521: 5515: 5513: 5512:Accommodations 5509: 5508: 5506: 5505: 5500: 5495: 5489: 5487: 5483: 5482: 5480: 5479: 5474: 5469: 5463: 5461: 5457: 5456: 5454: 5453: 5448: 5443: 5438: 5432: 5430: 5426: 5425: 5423: 5422: 5421: 5420: 5410: 5405: 5400: 5395: 5389: 5387: 5381: 5380: 5378: 5377: 5372: 5370:TEACCH program 5367: 5365:Neurodiversity 5362: 5357: 5352: 5347: 5345:Discrimination 5342: 5337: 5331: 5329: 5328:Related issues 5325: 5324: 5322: 5321: 5316: 5311: 5306: 5301: 5296: 5291: 5286: 5281: 5276: 5271: 5266: 5261: 5256: 5254:Cohen syndrome 5251: 5246: 5241: 5236: 5230: 5228: 5222: 5221: 5219: 5218: 5213: 5208: 5203: 5198: 5193: 5188: 5187: 5186: 5176: 5171: 5165: 5163: 5157: 5156: 5154: 5153: 5148: 5143: 5138: 5133: 5128: 5123: 5118: 5113: 5108: 5103: 5098: 5093: 5088: 5083: 5078: 5073: 5068: 5062: 5060: 5054: 5053: 5051: 5050: 5045: 5044: 5043: 5038: 5033: 5028: 5026:Classic autism 5017: 5015: 5011: 5010: 5008: 5007: 5002: 4997: 4995:Sex and gender 4992: 4987: 4982: 4977: 4972: 4967: 4962: 4957: 4951: 4949: 4945: 4944: 4937: 4936: 4929: 4922: 4914: 4905: 4904: 4901: 4900: 4889: 4878: 4876:article/916377 4867: 4855: 4854: 4852: 4848: 4847: 4844: 4843: 4832: 4821: 4810: 4795: 4779: 4774: 4773: 4771: 4770:Classification 4762: 4761: 4746:. March 2022. 4731: 4691: 4654:(5): 440–443. 4634: 4590: 4547: 4510: 4470: 4443:(9): 819–824. 4423: 4376: 4341: 4271: 4232:(4): 339–345. 4212: 4149: 4085: 4026: 4001: 3976: 3939:(3): 253–262. 3919: 3894: 3853: 3828: 3813: 3787: 3715: 3664: 3610: 3569: 3519: 3452: 3409: 3347: 3296: 3253: 3200: 3157: 3114: 3087:(3): 195–202. 3071: 3028: 2999:(6): 889–909. 2979: 2936: 2893: 2850: 2823:(5): 194–202. 2807: 2792: 2777: 2727: 2675: 2632: 2617: 2571: 2528: 2471: 2441: 2396: 2371: 2348:10.1086/320109 2320: 2253: 2216:(2): 396–406. 2196: 2137: 2100:(6): 944–950. 2077: 2034: 2005: 1962: 1917: 1874: 1845: 1826:(5): 588–590. 1810: 1767: 1724: 1675: 1626: 1580: 1524: 1494: 1379: 1324: 1303:"MeSH Browser" 1294: 1261: 1247:978-0826157362 1246: 1221: 1220: 1218: 1215: 1202: 1199: 1187: 1184: 1183: 1182: 1177: 1172: 1161:cardiac arrest 1158: 1151: 1150: 1147: 1141: 1128: 1122: 1086:encephalopathy 1060: 1057: 1011: 1003: 1001: 998: 996: 993: 957:Main article: 954: 951: 949: 948: 942: 937: 931: 927:some forms of 925: 922: 916: 911: 908: 905: 900: 889: 885:cerebral palsy 880: 879: 876: 873: 872:loss of speech 870: 867: 864: 861: 858: 857:screaming fits 854: 845: 842: 841: 840: 837: 834: 831: 828: 825: 822: 819: 816: 813: 810: 801: 800: 797: 788: 787: 784: 781: 778: 716: 713: 704: 701: 648: 645: 590:laboratories. 574:hypokinesia). 558:(VTA) and the 539: 536: 484:norepinephrine 479: 476: 466: 463: 423: 420: 408: 405: 383: 380: 375: 374: 371: 364: 354: 351: 342: 339: 322: 319: 313: 310: 304: 301: 299: 296: 223: 222: 217: 213: 212: 209: 203: 202: 197: 191: 190: 184: 180: 179: 169:cerebral palsy 158: 152: 151: 145: 139: 138: 131: 127: 126: 123: 119: 118: 115: 111: 110: 97: 91: 90: 84: 78: 77: 68: 62: 61: 57: 56: 48: 47: 40: 36: 35: 27: 15: 9: 6: 4: 3: 2: 7969: 7958: 7955: 7953: 7950: 7948: 7945: 7943: 7940: 7938: 7935: 7933: 7930: 7928: 7925: 7923: 7920: 7919: 7917: 7907: 7897: 7896: 7893: 7868: 7865: 7863: 7860: 7858: 7855: 7854: 7852: 7848: 7842: 7839: 7837: 7834: 7832: 7831:Sign language 7829: 7828: 7826: 7822: 7816: 7813: 7811: 7808: 7806: 7803: 7801: 7798: 7794: 7791: 7789: 7786: 7784: 7781: 7779: 7776: 7775: 7774: 7771: 7769: 7766: 7765: 7762: 7759: 7755: 7749: 7746: 7744: 7741: 7739: 7736: 7735: 7733: 7729: 7723: 7720: 7718: 7715: 7713: 7710: 7708: 7705: 7703: 7700: 7699: 7697: 7693: 7687: 7684: 7682: 7679: 7677: 7676:Freudian slip 7674: 7672: 7671:Lie detection 7669: 7667: 7664: 7663: 7661: 7657: 7651: 7650:Mirror neuron 7648: 7646: 7642: 7641:Limbic system 7639: 7638: 7636: 7634: 7630: 7624: 7621: 7619: 7616: 7614: 7611: 7607: 7606:Rett syndrome 7604: 7602: 7599: 7597: 7594: 7592: 7589: 7587: 7584: 7582: 7579: 7578: 7577: 7574: 7573: 7571: 7567: 7563: 7556: 7552: 7542: 7539: 7537: 7536:Social skills 7534: 7532: 7529: 7527: 7524: 7522: 7519: 7517: 7514: 7512: 7511:People skills 7509: 7507: 7504: 7502: 7499: 7497: 7496:Communication 7494: 7492: 7489: 7488: 7485: 7478: 7474: 7460: 7457: 7455: 7452: 7450: 7447: 7445: 7442: 7440: 7437: 7436: 7434: 7432:Multi-faceted 7430: 7424: 7421: 7419: 7416: 7415: 7413: 7411: 7407: 7401: 7398: 7394: 7391: 7390: 7389: 7386: 7384: 7380: 7377: 7376: 7374: 7370: 7364: 7361: 7359: 7356: 7354: 7351: 7349: 7346: 7344: 7343:Display rules 7341: 7339: 7336: 7334: 7331: 7330: 7328: 7326: 7322: 7314: 7313:Voice quality 7311: 7309: 7306: 7304: 7301: 7299: 7296: 7294: 7291: 7289: 7286: 7284: 7281: 7280: 7279: 7276: 7274: 7271: 7269: 7266: 7265: 7263: 7261: 7257: 7251: 7248: 7246: 7243: 7241: 7238: 7234: 7231: 7229: 7226: 7225: 7224: 7221: 7219: 7216: 7214: 7211: 7209: 7206: 7204: 7201: 7197: 7194: 7192: 7189: 7188: 7187: 7184: 7180: 7177: 7175: 7172: 7170: 7167: 7166: 7165: 7162: 7160: 7157: 7155: 7151: 7150:Body language 7148: 7146: 7143: 7142: 7140: 7136: 7132: 7128: 7123: 7119: 7115: 7108: 7103: 7101: 7096: 7094: 7089: 7088: 7085: 7069: 7066: 7064: 7061: 7059: 7056: 7054: 7051: 7049: 7048:Rett syndrome 7046: 7044: 7041: 7039: 7036: 7034: 7031: 7029: 7026: 7024: 7021: 7020: 7017: 7013: 7008: 7004: 6994: 6991: 6989: 6986: 6984: 6981: 6979: 6976: 6974: 6971: 6969: 6966: 6965: 6963: 6959: 6953: 6950: 6949: 6947: 6945: 6941: 6937: 6931: 6928: 6926: 6923: 6921: 6918: 6917: 6915: 6913: 6909: 6903: 6900: 6898: 6895: 6893: 6890: 6888: 6884: 6881: 6880: 6878: 6876: 6875:Neuromuscular 6872: 6866: 6863: 6861: 6858: 6856: 6853: 6851: 6848: 6847: 6845: 6842: 6838: 6832: 6829: 6827: 6824: 6822: 6819: 6816: 6815: 6812: 6811:Choroideremia 6809: 6807: 6804: 6801: 6797: 6794: 6792: 6789: 6786: 6785: 6782: 6779: 6777: 6774: 6772: 6771:MASA syndrome 6769: 6767: 6764: 6762: 6758: 6757: 6755: 6753: 6749: 6743: 6739: 6736: 6734: 6730: 6729: 6726: 6723: 6721: 6717: 6716: 6713: 6710: 6708: 6704: 6703: 6700: 6699:Fabry disease 6696: 6695: 6691: 6690: 6687: 6684: 6682: 6679: 6677: 6674: 6672: 6668: 6667: 6664: 6661: 6659: 6655: 6654: 6651: 6648: 6646: 6643: 6641: 6637: 6636: 6634: 6632: 6628: 6622: 6619: 6617: 6614: 6612: 6608: 6605: 6604: 6602: 6600: 6596: 6590: 6587: 6585: 6584:Haemophilia B 6582: 6580: 6579:Haemophilia A 6577: 6576: 6574: 6572: 6568: 6562: 6559: 6557: 6554: 6552: 6549: 6547: 6544: 6542: 6539: 6537: 6534: 6532: 6529: 6527: 6524: 6523: 6521: 6519: 6515: 6511: 6506: 6502: 6497: 6490: 6485: 6483: 6478: 6476: 6471: 6470: 6467: 6445: 6442: 6441: 6440: 6437: 6436: 6429: 6426: 6424: 6421: 6420: 6419: 6416: 6414: 6411: 6407: 6404: 6402: 6399: 6395: 6392: 6390: 6387: 6385: 6382: 6381: 6379: 6377: 6374: 6372: 6369: 6367: 6364: 6362: 6359: 6357: 6354: 6353: 6352: 6349: 6347: 6344: 6343: 6342: 6340: 6336: 6335: 6330: 6327: 6325: 6322: 6320: 6317: 6316: 6315: 6313: 6309: 6308: 6306: 6304: 6300: 6294: 6291: 6289: 6286: 6285: 6283: 6281: 6277: 6274: 6272: 6268: 6265: 6261: 6251: 6248: 6246: 6243: 6241: 6238: 6236: 6233: 6231: 6230:Reye syndrome 6228: 6226: 6223: 6222: 6220: 6216: 6210: 6207: 6205: 6202: 6198: 6195: 6193: 6190: 6188: 6185: 6183: 6182:Hydrocephalus 6180: 6179: 6178: 6175: 6174: 6172: 6170: 6166: 6154: 6150: 6149: 6148: 6145: 6144: 6142: 6138: 6132: 6128: 6126: 6123: 6121: 6118: 6117: 6115: 6113: 6109: 6103: 6099: 6097: 6094: 6092: 6089: 6087: 6084: 6083: 6081: 6079: 6075: 6069: 6065: 6063: 6060: 6058: 6055: 6053: 6050: 6049: 6047: 6045: 6041: 6037: 6034: 6032: 6026: 6020: 6016: 6014: 6011: 6009: 6006: 6004: 6001: 6000: 5998: 5996: 5995:Demyelinating 5992: 5982: 5979: 5978: 5976: 5974: 5970: 5964: 5961: 5960: 5959: 5958: 5952: 5949: 5947: 5944: 5940: 5937: 5936: 5935: 5931: 5928: 5924: 5921: 5917: 5914: 5913: 5912: 5909: 5908: 5907: 5904: 5903: 5901: 5899: 5895: 5889: 5886: 5884: 5883:Restless legs 5881: 5877: 5874: 5872: 5869: 5868: 5867: 5864: 5863: 5858: 5855: 5851: 5848: 5847: 5846: 5843: 5839: 5836: 5835: 5834: 5831: 5829: 5826: 5822: 5821:Blepharospasm 5819: 5817: 5814: 5812: 5809: 5807: 5804: 5803: 5802: 5799: 5798: 5797: 5794: 5793: 5788: 5785: 5783: 5780: 5778: 5777:Hemiballismus 5775: 5773: 5770: 5766: 5763: 5762: 5761: 5758: 5754: 5751: 5750: 5749: 5746: 5742: 5739: 5737: 5734: 5732: 5729: 5728: 5727: 5724: 5723: 5722: 5719: 5718: 5716: 5714: 5709: 5705: 5702: 5700: 5696: 5693: 5691: 5686: 5682: 5672: 5669: 5667: 5664: 5660: 5657: 5656: 5655: 5652: 5651: 5649: 5647: 5642: 5634: 5631: 5630: 5629: 5628:Brain abscess 5626: 5624: 5621: 5617: 5614: 5612: 5609: 5607: 5604: 5602: 5599: 5598: 5597: 5594: 5593: 5591: 5589: 5585: 5582: 5580: 5576: 5572: 5568: 5560: 5555: 5553: 5548: 5546: 5541: 5540: 5537: 5525: 5522: 5520: 5517: 5516: 5514: 5510: 5504: 5501: 5499: 5496: 5494: 5491: 5490: 5488: 5484: 5478: 5475: 5473: 5470: 5468: 5465: 5464: 5462: 5458: 5452: 5449: 5447: 5444: 5442: 5439: 5437: 5434: 5433: 5431: 5427: 5419: 5416: 5415: 5414: 5411: 5409: 5406: 5404: 5401: 5399: 5396: 5394: 5391: 5390: 5388: 5386: 5385:Controversies 5382: 5376: 5373: 5371: 5368: 5366: 5363: 5361: 5358: 5356: 5353: 5351: 5348: 5346: 5343: 5341: 5338: 5336: 5333: 5332: 5330: 5326: 5320: 5317: 5315: 5312: 5310: 5307: 5305: 5302: 5300: 5299:Rett syndrome 5297: 5295: 5292: 5290: 5287: 5285: 5282: 5280: 5277: 5275: 5272: 5270: 5267: 5265: 5264:Down syndrome 5262: 5260: 5257: 5255: 5252: 5250: 5247: 5245: 5242: 5240: 5237: 5235: 5232: 5231: 5229: 5227: 5223: 5217: 5214: 5212: 5209: 5207: 5204: 5202: 5199: 5197: 5194: 5192: 5189: 5185: 5182: 5181: 5180: 5177: 5175: 5172: 5170: 5167: 5166: 5164: 5162: 5158: 5152: 5149: 5147: 5144: 5142: 5139: 5137: 5134: 5132: 5129: 5127: 5124: 5122: 5119: 5117: 5114: 5112: 5109: 5107: 5104: 5102: 5099: 5097: 5094: 5092: 5089: 5087: 5084: 5082: 5079: 5077: 5074: 5072: 5069: 5067: 5064: 5063: 5061: 5059:and phenomena 5055: 5049: 5046: 5042: 5039: 5037: 5034: 5032: 5029: 5027: 5024: 5023: 5022: 5019: 5018: 5016: 5012: 5006: 5003: 5001: 4998: 4996: 4993: 4991: 4988: 4986: 4983: 4981: 4978: 4976: 4973: 4971: 4968: 4966: 4963: 4961: 4958: 4956: 4953: 4952: 4950: 4946: 4942: 4935: 4930: 4928: 4923: 4921: 4916: 4915: 4912: 4899: 4895: 4894: 4890: 4888: 4884: 4883: 4879: 4877: 4873: 4872: 4868: 4866: 4862: 4861: 4857: 4856: 4853: 4849: 4842: 4838: 4837: 4833: 4831: 4827: 4826: 4822: 4820: 4816: 4815: 4811: 4809: 4805: 4804: 4800: 4796: 4794: 4790: 4789: 4785: 4781: 4780: 4777: 4772: 4768: 4749: 4745: 4741: 4735: 4727: 4723: 4719: 4715: 4711: 4708:(in German). 4707: 4706: 4701: 4695: 4687: 4683: 4678: 4673: 4669: 4665: 4661: 4657: 4653: 4649: 4645: 4638: 4630: 4626: 4621: 4616: 4612: 4608: 4604: 4597: 4595: 4586: 4582: 4578: 4574: 4570: 4566: 4562: 4558: 4551: 4535: 4531: 4529: 4520: 4514: 4507: 4506:public domain 4488: 4486: 4480: 4474: 4466: 4462: 4458: 4454: 4450: 4446: 4442: 4438: 4434: 4427: 4420: 4419:public domain 4401: 4397: 4395: 4389: 4383: 4381: 4364: 4360: 4356: 4350: 4348: 4346: 4329: 4325: 4321: 4317: 4313: 4309: 4305: 4301: 4297: 4293: 4289: 4285: 4278: 4276: 4259: 4255: 4251: 4247: 4243: 4239: 4235: 4231: 4227: 4223: 4216: 4208: 4204: 4199: 4194: 4190: 4186: 4182: 4178: 4175:(2): 170216. 4174: 4170: 4169: 4164: 4160: 4153: 4145: 4141: 4136: 4131: 4127: 4123: 4118: 4113: 4109: 4105: 4104: 4099: 4092: 4090: 4081: 4077: 4072: 4067: 4063: 4059: 4055: 4051: 4047: 4043: 4042: 4037: 4030: 4015: 4011: 4005: 3990: 3989:www.rchsd.org 3986: 3980: 3972: 3968: 3963: 3958: 3954: 3950: 3946: 3942: 3938: 3934: 3930: 3923: 3908: 3904: 3898: 3882: 3878: 3874: 3868: 3866: 3864: 3862: 3860: 3858: 3849: 3845: 3841: 3835: 3833: 3824: 3820: 3816: 3810: 3806: 3802: 3798: 3791: 3775: 3771: 3767: 3763: 3759: 3754: 3753:2027.42/44607 3749: 3745: 3741: 3738:(4): 551–61. 3737: 3733: 3726: 3719: 3711: 3707: 3702: 3697: 3692: 3687: 3683: 3679: 3675: 3668: 3660: 3656: 3651: 3646: 3641: 3636: 3632: 3628: 3624: 3617: 3615: 3606: 3602: 3597: 3592: 3588: 3584: 3580: 3573: 3565: 3561: 3557: 3553: 3549: 3545: 3542:(2): 385–97. 3541: 3537: 3530: 3528: 3526: 3524: 3515: 3511: 3506: 3501: 3497: 3493: 3488: 3483: 3479: 3475: 3471: 3467: 3463: 3456: 3448: 3444: 3440: 3436: 3432: 3428: 3424: 3420: 3413: 3405: 3398: 3394: 3389: 3384: 3380: 3376: 3372: 3368: 3367: 3362: 3358: 3351: 3343: 3339: 3335: 3331: 3327: 3326:10.1038/30764 3323: 3319: 3315: 3311: 3307: 3300: 3292: 3288: 3284: 3280: 3276: 3275:10.1038/85906 3272: 3269:(3): 327–31. 3268: 3264: 3257: 3249: 3245: 3241: 3237: 3232: 3227: 3223: 3222:10.1038/85899 3219: 3215: 3211: 3204: 3196: 3192: 3188: 3184: 3180: 3176: 3172: 3168: 3161: 3153: 3149: 3145: 3141: 3137: 3133: 3130:(2): 118–28. 3129: 3125: 3118: 3110: 3106: 3102: 3098: 3094: 3090: 3086: 3082: 3075: 3067: 3063: 3059: 3055: 3051: 3047: 3043: 3039: 3032: 3024: 3020: 3016: 3012: 3007: 3002: 2998: 2994: 2990: 2983: 2975: 2971: 2967: 2963: 2959: 2955: 2951: 2947: 2940: 2932: 2928: 2924: 2920: 2916: 2912: 2908: 2904: 2897: 2889: 2885: 2881: 2877: 2873: 2869: 2866:(1): 91–127. 2865: 2861: 2854: 2846: 2842: 2838: 2834: 2830: 2826: 2822: 2818: 2811: 2803: 2796: 2788: 2781: 2773: 2769: 2765: 2761: 2757: 2753: 2750:(7): 1500–9. 2749: 2745: 2738: 2736: 2734: 2732: 2723: 2719: 2714: 2709: 2705: 2701: 2697: 2693: 2689: 2682: 2680: 2671: 2667: 2663: 2659: 2655: 2651: 2647: 2643: 2636: 2628: 2621: 2613: 2609: 2605: 2601: 2597: 2593: 2589: 2585: 2578: 2576: 2567: 2563: 2559: 2555: 2551: 2547: 2543: 2539: 2532: 2524: 2520: 2516: 2512: 2508: 2504: 2499: 2494: 2491:(s4): 81–91. 2490: 2486: 2482: 2475: 2459: 2455: 2451: 2445: 2437: 2433: 2429: 2425: 2421: 2420:10.1038/13810 2417: 2413: 2409: 2408: 2400: 2385: 2381: 2375: 2367: 2363: 2358: 2353: 2349: 2345: 2341: 2337: 2336: 2331: 2324: 2316: 2312: 2308: 2304: 2299: 2294: 2290: 2286: 2282: 2278: 2274: 2270: 2269: 2264: 2257: 2249: 2245: 2240: 2235: 2231: 2227: 2223: 2219: 2215: 2211: 2207: 2200: 2192: 2188: 2183: 2178: 2174: 2170: 2165: 2160: 2156: 2152: 2148: 2141: 2133: 2129: 2124: 2119: 2115: 2111: 2107: 2103: 2099: 2095: 2091: 2084: 2082: 2073: 2069: 2065: 2061: 2057: 2053: 2050:(6): 519–26. 2049: 2045: 2038: 2030: 2026: 2022: 2018: 2017: 2009: 2001: 1997: 1993: 1989: 1985: 1981: 1978:(5): 346–51. 1977: 1973: 1966: 1958: 1954: 1950: 1946: 1942: 1938: 1934: 1930: 1929: 1921: 1913: 1909: 1905: 1901: 1897: 1893: 1890:(3): 208–16. 1889: 1885: 1878: 1870: 1866: 1862: 1858: 1857: 1849: 1841: 1837: 1833: 1829: 1825: 1821: 1814: 1806: 1802: 1798: 1794: 1790: 1786: 1782: 1778: 1771: 1763: 1759: 1755: 1751: 1747: 1743: 1740:(2): 98–101. 1739: 1735: 1728: 1720: 1716: 1711: 1706: 1702: 1698: 1694: 1690: 1686: 1679: 1671: 1667: 1662: 1657: 1653: 1649: 1646:(6): 944–50. 1645: 1641: 1637: 1630: 1622: 1618: 1614: 1610: 1606: 1605:10.1038/13810 1602: 1598: 1594: 1587: 1585: 1576: 1572: 1567: 1562: 1558: 1554: 1550: 1546: 1542: 1535: 1533: 1531: 1529: 1512: 1508: 1504: 1498: 1482: 1478: 1474: 1468: 1466: 1464: 1462: 1460: 1458: 1456: 1454: 1452: 1450: 1448: 1446: 1444: 1442: 1440: 1438: 1436: 1434: 1432: 1430: 1428: 1426: 1424: 1422: 1420: 1418: 1416: 1414: 1412: 1410: 1408: 1406: 1404: 1402: 1400: 1398: 1396: 1394: 1392: 1390: 1388: 1386: 1384: 1367: 1363: 1359: 1353: 1351: 1349: 1347: 1345: 1343: 1341: 1339: 1337: 1335: 1333: 1331: 1329: 1312: 1308: 1304: 1298: 1289: 1284: 1280: 1276: 1272: 1265: 1258: 1253: 1249: 1243: 1239: 1235: 1234: 1226: 1222: 1214: 1212: 1207: 1198: 1196: 1192: 1181: 1178: 1176: 1173: 1170: 1166: 1162: 1159: 1156: 1155: 1154: 1148: 1146: 1143:reduction of 1142: 1140: 1136: 1134: 1129: 1127: 1123: 1120: 1117: 1116: 1115: 1112: 1108: 1106: 1102: 1098: 1093: 1091: 1087: 1083: 1079: 1074: 1065: 1053: 1049: 1045: 1043: 1039: 1034: 1032: 1028: 1024: 1020: 1015: 1008: 992: 988: 984: 982: 978: 974: 969: 967: 960: 946: 943: 941: 938: 935: 932: 930: 926: 923: 920: 917: 915: 912: 909: 906: 904: 901: 899: 895: 891: 890: 888: 886: 877: 874: 871: 868: 865: 862: 859: 856: 855: 853: 851: 838: 835: 832: 829: 826: 823: 820: 817: 814: 811: 808: 807: 806: 805: 798: 795: 794: 793: 792: 785: 782: 779: 776: 775: 774: 773: 769: 765: 762: 758: 756: 752: 751:Down syndrome 748: 744: 740: 736: 735: 730: 721: 712: 710: 700: 698: 694: 690: 686: 685:mRNA splicing 682: 678: 674: 670: 666: 665:transcription 662: 658: 654: 644: 642: 637: 635: 631: 627: 623: 619: 614: 612: 608: 604: 600: 596: 591: 589: 585: 581: 575: 571: 567: 563: 561: 557: 553: 549: 548:mesencephalon 545: 535: 533: 527: 525: 521: 517: 513: 509: 505: 501: 497: 493: 489: 485: 471: 462: 460: 456: 452: 447: 446: 441: 437: 433: 429: 419: 417: 415: 404: 400: 398: 394: 389: 379: 372: 368: 365: 361: 360: 359: 350: 348: 338: 336: 332: 328: 318: 309: 295: 293: 288: 286: 285:physiotherapy 282: 278: 273: 271: 267: 264:gene, on the 263: 262: 256: 254: 250: 246: 242: 237: 233: 229: 228:Rett syndrome 218: 214: 210: 208: 204: 201: 198: 196: 192: 188: 185: 181: 178: 174: 170: 166: 162: 159: 157: 153: 150: 146: 144: 140: 136: 132: 128: 124: 120: 116: 112: 109: 105: 101: 98: 96: 95:Complications 92: 89: 85: 83: 79: 76: 72: 69: 67: 63: 58: 54: 49: 45: 41: 37: 34:Rett syndrome 32: 26: 22: 7666:Cold reading 7659:Applications 7633:Neuroanatomy 7605: 7278:Paralanguage 7047: 6817: 6787: 6759: 6731: 6718: 6705: 6692: 6669: 6658:Dyslipidemia 6656: 6638: 6438: 6337: 6310: 6271:Degenerative 6008:Inflammatory 5955: 5888:Stiff-person 5726:Parkinsonism 5699:Degenerative 5596:Encephalitis 5579:Inflammation 5569:, primarily 5298: 4975:Heritability 4965:Epidemiology 4891: 4880: 4869: 4858: 4834: 4823: 4812: 4797: 4782: 4752:. Retrieved 4743: 4734: 4709: 4703: 4694: 4651: 4647: 4637: 4610: 4606: 4563:(3): 162–4. 4560: 4556: 4550: 4538:. Retrieved 4525: 4513: 4491:. Retrieved 4482: 4473: 4440: 4436: 4426: 4404:. Retrieved 4391: 4367:. Retrieved 4358: 4332:. Retrieved 4291: 4287: 4262:. Retrieved 4229: 4225: 4215: 4172: 4168:Open Biology 4166: 4152: 4107: 4101: 4045: 4039: 4029: 4017:. Retrieved 4013: 4004: 3992:. Retrieved 3988: 3979: 3936: 3932: 3922: 3910:. Retrieved 3906: 3897: 3885:. Retrieved 3876: 3843: 3796: 3790: 3778:. Retrieved 3735: 3731: 3718: 3681: 3677: 3667: 3630: 3626: 3589:(3): 321–3. 3586: 3582: 3572: 3539: 3535: 3469: 3465: 3455: 3422: 3418: 3412: 3370: 3364: 3350: 3309: 3305: 3299: 3266: 3262: 3256: 3216:(3): 322–6. 3213: 3209: 3203: 3170: 3166: 3160: 3127: 3123: 3117: 3084: 3080: 3074: 3041: 3037: 3031: 2996: 2992: 2982: 2949: 2945: 2939: 2906: 2902: 2896: 2863: 2859: 2853: 2820: 2816: 2810: 2801: 2795: 2786: 2780: 2747: 2743: 2695: 2691: 2648:(1): 33–84. 2645: 2641: 2635: 2626: 2620: 2590:(1): 59–75. 2587: 2583: 2544:(1): 56–60. 2541: 2537: 2531: 2488: 2484: 2474: 2462:. Retrieved 2453: 2444: 2414:(2): 185–8. 2411: 2405: 2399: 2387:. 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Retrieved 1306: 1297: 1278: 1274: 1264: 1255: 1232: 1225: 1206:Gene therapy 1204: 1191:Andreas Rett 1189: 1152: 1132: 1113: 1109: 1104: 1094: 1081: 1070: 1035: 1021: 1019: 989: 985: 977:beta-blocker 970: 962: 919:microcephaly 894:malnutrition 882: 847: 803: 802: 790: 789: 771: 770: 766: 763: 759: 732: 726: 706: 692: 691:processes. 671:) and 5hmc ( 663:and affects 656: 650: 638: 633: 629: 625: 617: 615: 610: 606: 602: 598: 594: 592: 579: 576: 572: 568: 564: 541: 531: 528: 523: 515: 511: 487: 481: 458: 450: 443: 431: 425: 413: 410: 401: 385: 376: 356: 344: 324: 315: 306: 289: 274: 266:X chromosome 259: 257: 231: 227: 226: 88:smaller head 43: 25: 7645:Limbic lobe 7410:Unconscious 7393:Missed call 7363:Social norm 7338:Conventions 7228:Eye contact 6571:Hematologic 6423:Fazio–Londe 6263:Both/either 6057:Generalised 5916:Early-onset 5911:Alzheimer's 5646:spinal cord 5403:MMR vaccine 5131:Infodumping 5106:Monotropism 5101:Late talker 5066:Alexithymia 4970:Epigenetics 4882:GeneReviews 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