Genetic causes of syndromic and non‐syndromic autism

Çağlayan, Ahmet Okay

doi:10.1111/j.1469-8749.2009.03523.x

Cited by 104 publications

(87 citation statements)

References 80 publications

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“…[1][2][3] Results of population studies of unselected cases of autism are most consistent with multifactorial inheritance. Until quite recently, the accepted recurrence risk for full siblings of a child with autism has been in the range of 3-10%.…”

mentioning

confidence: 92%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer

Mendelsohn

2013

Genetics in Medicine

453

393

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Autism spectrum disorders (ASDs), also known as pervasive developmental disorders, are a behaviorally defined group of neurodevelopmental disorders that are usually diagnosed in early childhood. They are characterized by varying degrees of limitations in communication and social interaction and by atypical, repetitive behaviors with an onset before 3 years of age. The phenotype of ASDs is extremely heterogeneous, with differences from person to person in a wide range of symptoms and severity as well as differences between the various subtypes of ASDs (e.g., autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified).Multiple lines of epidemiologic evidence support the strong role of genetics in the etiology of ASDs. 1-3 Results of population studies of unselected cases of autism are most consistent with multifactorial inheritance. Until quite recently, the accepted recurrence risk for full siblings of a child with autism has been in the range of 3-10%. [4][5][6] Overall, only 2-3% of families have more than one affected child (possibly because of voluntary avoidance of pregnancy after a child is diagnosed). Most studies have reported a sex bias in the recurrence risk in keeping with the presumption of a "multifactorial" mode of inheritance (higher risk if the affected person is of the less commonly affected sex). As such, the reported risk is 7% of another affected child if the first affected child is female and 4% if the first affected child is male. 7 If multiple children (two or more) have autism, the recurrence risk is on the order of 33-50% for any future pregnancy. 7 Two recent studies 8,9 have reported even higher recurrence risks of 11 and 19% with single-sibling involvement. The first 8 was a retrospective self-enrolled/self-identified study using an interactive website. The diagnosis was confirmed, but the identification of second siblings may be a source of ascertainment bias. The second 9 was an international multisite prospective study in 664 families with a calculated 19% recurrence risk. Interestingly, the typically reported sex bias was not noted in one of these studies. 8 Both were single studies that bear replication.The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. The primary roles of the geneticist in this process are to define etiology when possible, to provide genetic counseling, and to contribute to case management. In deciding on the appropriate evaluation for a particular patient, the geneticist will consider a host of factors: (i) ensuring an accurate diagnosis of autism befor...

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mentioning

confidence: 92%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer

Mendelsohn

2013

Genetics in Medicine

453

393

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“…Pues, a tenor del número de repeticiones de CGG, el alelo se clasifica como normal (alrededor de 5-45 repeticiones), intermedio o zona gris (de 46-54 repeticiones), premutación (entre 55-199 repeticiones), o mutación completa (más de 200 repeticiones) 8 . Vinculado con ello, cabe reseñar que, aunque la mayor parte de los varones premutados no exhiben alteración cognitiva alguna, hay algunos que presentan criterios exigidos para el diagnóstico de TEA.…”

Section: El Síndrome X Frágil (Sxf)unclassified

Etiología del autismo: el continuo idiopático-sindrómico como tentativa explicativa

R¹

2015

Rev. chil. neuro-psiquiatr.

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Este trabajo no cuenta con financiación alguna y el autor declara no tener conflicto de interés. Punto de partidaA ún con los avances más recientes en el terreno de las neurociencias, cuadros clínicos tan graves como el autismo plantean enormes retos a clínicos e investigadores en genética. En este sentido, lejos de ofrecer una respuesta cabal, que explique la compleja etiopatogenia de este síndrome, nuestro trabajo persigue mostrar algunos hallazgos experimentales recientes que apuntan a la plausible continuidad entre el autismo primario y su homó-logo secundario. Investigaciones futuras habrán de evidenciar si tal hipótesis tentativa resulta válida o fallida. De igual modo, conviene destacar que, dada la incontable eclosión de trabajos que cada día son publicados en las diferentes bases de datos internacionales, la exhaustividad de nuestra revisión de la literatura especializada queda comprometida, siendo una falla que asumimos.Compensando esto, decidimos revisar aquí

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“…HOXA1, of autosomal recessive inheritance (Caglayan, 2010), is only one of many genes involved in the spectrum of autism disorders (Rodier, 2000). In addition, the involvement of the DbetaH (DBH) gene with autism was documented in families of autistic children that have a low level of serum dopamine β-hydroxylase, which catalyzes the conversion of dopamine to norepinephrine (Robinson et al, 2001).…”

Section: Geneticsmentioning

confidence: 99%

“…Although the odds ratios suggested only a moderate relevance for the DBH-allele as a risk allele, the attributable risk was high (42%), indicating this allele is an important factor in determining the risk for having a child with autism. Selected genes for a monogenic heritable form of autism include NLGN3, NLGN4, NRXN1, MeCP2, and HOXA1 (Caglayan, 2010).…”

Section: Geneticsmentioning

confidence: 99%