Autism spectrum disorders: Molecular genetic advances

Bacchelli, Elena; Maestrini, Elena

doi:10.1002/ajmg.c.30078

Cited by 55 publications

(38 citation statements)

References 88 publications

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“…Our findings extend the implications of this previous research, by suggesting that familial shyness/decreased social motivation may pose a specific risk for the degree of proband impairment in social functioning. Identifying such phenotypes with potential genetic relevance to variability in autism presentation is critical, given the acknowledged complexity and heterogeneity of the genetic pathway to autism (Bacchelli and Maestrini 2006) and the need for stratification techniques that are likely to produce replicable genetic findings.…”

Section: Discussionmentioning

confidence: 99%

Variability in Adaptive Behavior in Autism: Evidence for the Importance of Family History

Mazefsky

Williams

Minshew

2008

J Abnorm Child Psychol

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Adaptive behavior in autism is highly variable and strongly related to prognosis. This study explored family history as a potential source of variability in adaptive behavior in autism. Participants included 77 individuals (mean age=18) with average or better intellectual ability and autism. Parents completed the Family History Interview about the presence of broader autism phenotype symptoms and major psychiatric disorders in first degree relatives. Adaptive behavior was assessed via the Vineland Adaptive Behavior Scales (VABS). Based on family history variables, age, and intelligence quotient (IQ), 87% of participants were correctly classified as having impaired or average VABS scores. Family history of depression and shyness accounted for the most variance in VABS scores, and they had the greatest influence on VABS Socialization scores in particular. Possible underlying mechanisms include genetics, psychosocial factors, and social resources. This study provides initial evidence of the importance of family history to adaptive behavior in autism and has implications for genetics and treatment.

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Section: Discussionmentioning

confidence: 99%

Variability in Adaptive Behavior in Autism: Evidence for the Importance of Family History

Mazefsky

Williams

Minshew

2008

J Abnorm Child Psychol

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“…РАС наблюдаются при заболеваниях, сопровождающих-ся патологией метаболизма (фенилкетонурия, синдром Смита-Лемли-Опитца) или органическими поражени-ями вещества головного мозга (туберозный склероз, нейрофиброматоз). Частота РАС при этих заболеваниях весьма высока [8][9][10][11][12].…”

Section: перспективы диагностики расстройств аутистического спектра уunclassified

“…Таким образом, есть основания полагать, что наследование определенных генов, хромосомных абер-раций предрасполагает к развитию РАС и ассоцииро-ванных психических заболеваний, но реализуется эта предрасположенность в присутствии других генетических и средовых факторов [10][11][12].…”

Section: перспективы диагностики расстройств аутистического спектра уunclassified

“…В число поведенческих особенностей входят повышенная тревожность, избегание контакта «глаза в глаза», стереотипии, нарушения сна. Дети с синдромом Вильямса чрезмерно общительны и открыты, однако им сложно формировать дружеские взаимоотношения, они часто не понимают эмоционального состояния и истинных мотивов поступков других людей, что обусловливает дефицит социализации и взаимной коммуникации Долгие годы рекомендованным стандартом моле-кулярно-генетической диагностики детей с РАС явля-лось сочетание цитогенетических методов: исследование кариотипа и теста на ломкость Х-хромосомы (для лиц мужского пола), что в 5% случаев при диагностике у детей с аутистическими расстройствами позволяло установить генетическую патологию [10][11][12]. К стандартным цитоге-нетическим методам диагностики относят кариотипиро-вание с G-окрашиванием и флуоресцентную гибридиза-цию in situ (FISH).…”

Section: непрерывное профессиональное образованиеunclassified

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Prospects of Diagnostics of Autism Spectrum Disorders in Children

Новосёлова¹,

Каркашадзе²,

Zhurkova³

et al. 2014

Vopr. sovr. pediatr.

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“…38 The results have been contradictory. Some groups have reported excess transmission of the short allele, while others have reported excess transmission of the long allele or stronger association with single nucleotide polymorphisms (SNPs) in the region.…”

Section: Candidate Genesmentioning

confidence: 99%

Autismo: genética

Gupta

State

2006

Rev. Bras. Psiquiatr.

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A b s t r a c t Autism is a strongly genetic disorder, with an estimated heritability of greater than 90%. A combination of phenotypic heterogeneity and the likely involvement of multiple interacting loci have hampered efforts at gene discovery. As a consequence, the genetic etiology of the spectrum of autism related disorders remains largely unknown. Over the past several years, the convergence of rapidly advancing genomic technologies, the completion of the human genome project, and increasingly successful collaborative efforts to increase the number of patients available for study have led to the first solid clues to the biological origins of these disorders. This paper will review the literature to date summarizing the results of linkage, cytogenetic, and candidate gene studies with a focus on recent progress. In addition, promising avenues for future research are considered.Keywords: Autistic disorder; Genetics; Linkage (Genetics); Cytogenetics; Association Resumo O autismo é um transtorno fortemente genético, com uma herdabilidade estimada de mais de 90%. Uma combinação de heterogeneidade fenotípica e o provável envolvimento de múltiplos loci que interagem entre si dificultam os esforços de descobertas de genes. Conseqüentemente, a etiologia genética dos transtornos relacionados ao autismo permanece, em grande parte, desconhecida. Nos últimos anos, a convergência entre tecnologias genômicas em rápido avanço, a finalização do projeto genoma humano e os crescentes e exitosos esforços em colaboração para aumentar o número de pacientes disponíveis para estudo conduziram às primeiras pistas sólidas sobre as origens biológicas desses transtornos. Este artigo revisará a literatura até nossos dias, resumindo os resultados de estudos de ligação genética, citogenéticos e de genes candidatos com um foco no progresso recente. Além disso, são consideradas as vias promissoras para pesquisas futuras.

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Autism spectrum disorders: Molecular genetic advances

Cited by 55 publications

References 88 publications

Variability in Adaptive Behavior in Autism: Evidence for the Importance of Family History

Variability in Adaptive Behavior in Autism: Evidence for the Importance of Family History

Prospects of Diagnostics of Autism Spectrum Disorders in Children

Autismo: genética

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