Characteristics of the broader phenotype in autism: A study of siblings using the children's communication checklist‐2

Bishop, Dorothy V. M.; Maybery, Murray T.; Wong, Dana; Maley, Alana; Hallmayer, Joachim

doi:10.1002/ajmg.b.30267

Cited by 119 publications

(109 citation statements)

References 16 publications

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“…99 Language abilities, however, were not impaired in siblings of children with autism 100 arguing against language abilities as a marker for the BAP. Two other studies, however, did find a reduced variance within autistic sib-ships regarding the onset of phrase speech, 101 and an influence of language abilities on the correlation of ICD-10 autism symptoms and the presence of the BAP in relatives, 102 arguing for a role of language abilities in the genetics of AD.…”

Section: Family Studiesmentioning

confidence: 97%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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Section: Family Studiesmentioning

confidence: 97%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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“…60 Finally, diagnosis of an ASD may be made in an older family member with milder symptoms that were previously unrecognized until after the diagnosis of a younger child. 61 Regardless of the study, the year conducted, or the reported rate of prevalence, more boys than girls are consistently found to be affected with ASDs, with maleto-female ratios ranging from 2:1 to 6.5:1. 24,28,29,34,62 The male-to-female ratio is even higher for high-functioning autism and AS, ranging from 6:1 to as high as 15:1.…”

Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning

confidence: 99%

Identification and Evaluation of Children With Autism Spectrum Disorders

Johnson

Myers²

2007

Pediatrics

1,657

1,038

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Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled “Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians,” which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.

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“…Recently, the search for endophenotypes has led to the definition of the "Broader Autism Phenotype," in which certain impairments in joint attention, language, and social interaction have been isolated in "typical" family members of children with autism (Bailey and Parr 2003;Bishop et al 2006;Bolte et al 2007;Bolte and Poustka 2006;Dawson et al 2002aDawson et al , b, 2007Ruser et al 2007;Scheeren and Stauder 2007;Stone et al 2007;Sullivan et al 2007;Sung et al 2005). In one representative study, Dawson's group performed a study of face processing using ERPs in parents of children with autism and found, behaviorally and electrophysiologically, that parents of children with autism did not show the expected preference for faces over objects.…”

Section: The Futurementioning

confidence: 99%

Event Related Potentials in the Understanding of Autism Spectrum Disorders: An Analytical Review

Jeste

Nelson

2008

J Autism Dev Disord

160

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In this paper we critically review the literature on the use of event related potentials (ERPs) to elucidate the neural sources of the core deficits in autism. We review auditory and visual ERP studies, and then review the use of ERPs in the investigation of executive function. We conclude that, in autism, impairments likely exist in both low and higher level auditory and visual processing, with prominent impairments in the processing of social stimuli. We also discuss the putative neural circuitry underlying these deficits. As we look to the future, we posit that tremendous insight can be gained by applying ERPs to the definition of endophenotypes, which, in turn, can facilitate early diagnosis and the creation of informed interventions for children with autism. KeywordsEvent related potential (ERP); Autism; Auditory processing; Visual processing Since autism was first described by Kanner over fifty years ago (Kanner 1943), the neurobiology of this disorder has become the focus of intense scientific investigation. While extensive efforts have been made in describing the behaviors that define autism, only in recent years has progress been made to elucidate the underlying neural circuitry involved in autism, through structural and, more recently, functional neuroimaging. Through these studies has come a heightened interest in aberrant neural circuitry in autism. Of the neuroimaging tools that have been used to elucidate brain circuitry, functional electrophysiology stands alone in capacity to define early (i.e. in infancy) neural markers and endophenotypes. This technique, therefore, warrants further scrutiny. Using functional electrophysiology, defined by evoked potentials and then by event related potentials (ERPs), researchers have begun to elucidate sources of the core deficits in autism

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Characteristics of the broader phenotype in autism: A study of siblings using the children's communication checklist‐2

Cited by 119 publications

References 16 publications

The genetics of autistic disorders and its clinical relevance: a review of the literature

The genetics of autistic disorders and its clinical relevance: a review of the literature

Identification and Evaluation of Children With Autism Spectrum Disorders

Event Related Potentials in the Understanding of Autism Spectrum Disorders: An Analytical Review

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