Investigating the Evidence of Behavioral, Cognitive, and Psychiatric Endophenotypes in Autism: A Systematic Review

Substantial evidence indicates that parents of autistic individuals often display milder forms of autistic traits referred to as the broader autism phenotype (BAP). To determine if discrete endophenotypes of autism can be identified, we reviewed the literature to assess the evidence of behavioral, cognitive, and psychiatric profiles of the BAP. A systematic review was conducted using EMBASE, MEDLINE, PsycINFO, PsycEXTRA, and Global Health. Sixty papers met our inclusion criteria and results are discussed according to the proportion of studies that yield significant deficits per domain. The behavioral, cognitive, and psychiatric endophenotypes in parents of autistic probands are still not clarified; however, evidence suggests mild social/communication deficits, rigid/aloof personality traits, and pragmatic language difficulties as the most useful sociobehavioral candidate endophenotype traits. The existence of deficits in the cognitive domain does suggest familial vulnerability for autism. Furthermore, increased depressed mood and anxiety can also be useful markers; however, findings should be interpreted with caution because of the small number of studies in such heterogeneously broad domains and several methodological limitations

Autism Spectrum Disorders in Tanzania: Awareness, Diagnosis, Risk Factors and Endophenotypes

Autism Spectrum Disorder (ASD) is common worldwide, but little is known of the condition in sub-Saharan Africa (SSA). I set out to study the lived experiences, identification, risk factors and phenotypic expressions of ASD in Dar-es-Salaam, Tanzania. I conducted a systematic review of the Broader Autism Phenotype (BAP) in biological parents of ASD probands. I conducted a qualitative study using 7 focus group discussions and 13 in-depth interviews to investigate the knowledge and lived experiences of 14 caregivers of children with ASD and 37 key community informants. I screened 284 children (108 had ASD, 60 had other neurodevelopmental disorders (NDD) and 116 were typically developing (TD)), and used these groups of children to validate the Social Communication Questionnaire (SCQ), and for determining risk factors for ASD. Psychometric properties were examined, and risk factors determined in multivariable models. I further assessed BAP traits of 267 parents (of 103 children with ASD, 57 children with NDD and 107 TD children) exploring the psychometric properties of the Autism Spectrum Quotient (AQ). The systematic review identified social/communication deficits, rigid/aloof personality traits, and pragmatic language difficulties as useful socio-behavioural endophenotype traits. The qualitative study identified consistent emerging sub-themes: knowledge/awareness in the identification/presentation of ASD, its‘ perceived causes, and the challenges experienced by caregivers and community stakeholders. The Kiswahili SCQ showed between acceptable and excellent reliability (Cronbach‘s (α)=0.65-0.92) and supports a 2-factor model of combined social interaction and communication, and repetitive behaviours, recommended by DSM-5 criteria. Early-life malaria was associated with the greatest independent risk for ASD, being more common among the ASD (31%) than TD group (4%). The Kiswahili AQ had acceptable reliability (Cronbach‘s α=0.84) for all items. The BAP in parents of children with ASD (53%) was higher than for those with NDD (21%) or TD (16%), suggesting BAP are particularly characteristic of ASD

Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment: A Report on the International Child Neurology Association Meeting on ASD in Africa, Ghana, April 3-5, 2014

Abstract: Prevalence of autism spectrum disorders has increased over recent years, however, little is known about the identification and management of autism spectrum disorder in Africa. This report summarizes a workshop on autism spectrum disorder in Africa under the auspices of the International Child Neurology Association and the African Child Neurology Association through guided presentations and working group reports, focusing on identification, diagnosis, management, and community support. A total of 47 delegates participated from 14 African countries. Although there was a huge variability in services across the countries represented, numbers of specialists assessing and managing autism spectrum disorder was small relative to populations served. Strategies were proposed to improve identification, diagnosis, management and support delivery for individuals with autism spectrum disorder across Africa in these culturally diverse, low-resource settings. Emphasis on raising public awareness through community engagement and improving access to information and training in autism spectrum disorder. Special considerations for the cultural, linguistic, and socioeconomic factors within Africa are discussed