The broad autism phenotype in parents of individuals with autism: a systematic review of the literature

Cruz, Lidia Prata; Camargos-Junior, Walter; Rocha, Fábio Lopes

doi:10.1590/2237-6089-2013-0019

Cited by 30 publications

(31 citation statements)

References 52 publications

(51 reference statements)

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“…Cruz et al (2013) reviewed studies of BAP in parents of individuals with ASD and found widely varied BAP symptoms in parents, including pragmatic language impairment, lack of friends, difficulties in planning, impaired working memory, and impaired detection of emotions in face expressions. Cruz et al (2013) also noted a great variation in BAP symptom prevalence, ranging from no parent deficits in skills such as reading and spelling to more than 40 % of parents expressing some form of pragmatic language deficit.…”

Section: Rates Of Recovery From Asd Are Variedmentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Section: Rates Of Recovery From Asd Are Variedmentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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“…their parents and siblings. Broader autism phenotype is defined as a set of specific social and communication skills as well as personality features, considered to be a 'lighter' expression of features characteristic for autism (Cruz et al, 2013;Sucksmith, Roth, & Hoekstra, 2011). It is important to note that BAP does not constitute a separate diagnostic entity -difficulties observed in families of individuals with ASD are too mild to fulfil the criteria needed to be defined as a disorder (Gerdts & Bernier, 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Bolton and his co-workers (1994) determined their presence in about 12.40% of individuals from that group and only in 1.60% of siblings of people with Down syndrome (DS). In their systematic literature review, Cruz et al (2013) concluded that BAP occurs in 12-30% of siblings of individuals with ASD. Most studies indicate that at least half of the relatives of people with ASD do not show any deficits in the analysed areas, which suggests that features associated with BAP occur in a subgroup of the family members (Gerdts & Bernier, 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Some difficulties in communication were also observed among older siblings (over 3 years of age) of children from the ASD group (for review: Cruz et al, 2013;Pisula & Ziegart-Sadowska, in press). Difficulties occur in various aspects of communication: pragmatic use of language (Ben-Yizhak et al, 2011;Bolton et al, 1994;Folstein et al, 1999), syntax (Bishop, Maybery, Wong, Maley, & Hallmayer, 2006), general language and communication skills (Gamliel et al, 2007;Levy & Bar-Yuda, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Language abilities in preschool-aged siblings of children with autism spectrum disorders – preliminary report

Pisula¹,

Ziegart-Sadowska²,

Kawa³

2015

Health Psychology Report

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Background The characteristics of autism spectrum disorders (ASD) observed among relatives of people affected with autism are referred to as broader autism phenotype (BAP). Among the components of BAP are language and communication skills. Research to date on these skills amongst the relatives of individuals with ASD is inconclusive. Furthermore, limited data are available about preschool-aged siblings of children with ASD. Participants and procedure Eighty-six children aged 4 years and 6 months – 6 years and 11 months took part in the study (32 girls and 54 boys). They were divided into four groups: siblings of children with autism (S/ASD), high-functioning children diagnosed with autism spectrum disorders (HF/ASD), siblings of children with Down syndrome (S/DS) and siblings of typically developing children (Controls, C). Communication and language skills were tested using the Vocabulary Test for Children (TSD). It was used to assess two kinds of verbal skills: receptive language (passive) and expressive language (active). Results No differences were observed in expressive lanquage or receptive language between siblings of children with ASD and siblings of children with DS as well as typically developing children. In terms of receptive language and general communication skills, siblings of children with ASD scored higher than high functioning children with ASD. High functioning children with ASD displayed difficulties with receptive language, expressive language, general language and communication skills. Conclusions The results suggest that siblings of children with ASD do not display deficits in communication and language skills. It is however important to note that due to a small sample size this study should be considered as preliminary.

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“…On the other hand, executive functions (EFs) consist of a set of cognitive skills that, when associated, are designed to execute an oriented behavior towards previously established purposes, thus allowing the individuals to directly interact with the world and to organize tasks, such as setting goals, evaluating the efficiency and adequacy of the behavior according to situations, and abandoning improper strategies for the sake of more appropriate or convenient ones to solve problems (Cruz, Camargos-Junior, & Rocha, 2013;MalloyDiniz et al, 2010;Sesma, Mahone, Levine, Eason, & Cutting, 2009;Tonietto, Wagner, Trentini, Sperb, & Parente, 2011;Yasumura, Inagaki, & Hiraki, 2014). EFs are responsible for articulating subordinated functions such as thinking, working memory, planning, attention and inhibitory control, and cognitive flexibility, among others, which guide the execution of a behavior with specific aims (Ferrier, Bassett, & Denham, 2014;Miyake & Friedman, 2012;Olaithe & Bucks, 2013;Skogan et al, 2015).…”

mentioning

confidence: 99%

Visual-Motor Maturity and Executive Functions in Schoolchildren

Oliveira

Kaiser

Azambuja

et al. 2016

Paidéia (Ribeirão Preto)

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Visual-motor maturity and executive functions are closely related in the child development process. This study aimed to investigate the relation between visual-motor abilities and executive functions in 83 healthy children between 7 and 10 years old. The tools used were the Bender Gestalt Visual-Motor Test -Gradual Scoring System (B-GSS), Wisconsin Card Sorting Test (WCST), Raven's Progressive Matrices (RPM), and Rey-Osterrieth Complex Figure (ROCF). The correlation between the B-GSS and WCST scores was significantly negative (r = -.23, p < .033), while ROCF variables, such as Total Memory and Total Copy, had a moderate, significant correlation with total B-GSS score (r = -.55, p < .001; r = -.44, p < .001, respectively). The results empirically show the relation between executive functions and visual-motor maturity and are discussed in face of developmental neuropsychology.Keywords: perceptual motor development, cognitive neuropsychology, Bender-Gestalt Test, Wisconsin card sorting test Maturidade Visomotora e Funções Executivas em EscolaresResumo: A maturidade visomotora e as funções executivas estão intimamente relacionadas no processo de desenvolvimento infantil. O objetivo deste estudo foi investigar a relação entre habilidades visomotoras e funções executivas em 83 crianças hígidas, de 7 a 10 anos. Os instrumentos utilizados foram Teste Gestáltico Visomotor de Bender -Sistema de Pontuação Gradual (B-GSS), Teste Wisconsin de Classificação de Cartas (WCST), Matrizes Progressivas de Raven (RPM) e Rey-Osterrieth Figura Complexa Test (ROCF).A correlação entre os escores de B-GSS e WCST foi negativa e significativa (r = 0,23, p < 0,033) e variáveis do ROCF, como Cópia Total e Memória Total apresentaram correlação moderada e significativa com o escore total do B-GSS (r = -0,55, p < 0,001; r = -0,44, p < 0,001, respectivamente). Os resultados evidenciam empiricamente a relação entre funções executivas e maturidade visomotora e são discutidos à luz da neuropsicologia do desenvolvimento. Palavras-chave: desenvolvimento percetomotor, neuropsicologia cognitiva, Teste Gestáltico de Bender, teste Wisconsin de classificação de cartas Madurez Visomotora y Funciones Ejecutivas en EscolaresResumen: La madurez visual-motora y las funciones ejecutivas están estrechamente relacionados en el proceso de desarrollo del niño. El objetivo de este estudio fue investigar la relación entre habilidades visomotoras y funciones ejecutivas en 83 niños sanos, de 7-10 años. Los instrumentos utilizados fueron Prueba Gestáltica Visomotora de Bender -Sistema de Puntuación Gradual (B-GSS), Prueba Wisconsin de Clasificación de Cartas (WCST), Matrices Progresivas de Raven (RPM) y Prueba Rey-Osterrieth Figura Compleja (ROCF). La correlación entre las puntuaciones B-GSS y WCST fue negativa y significativa (r = 0,23, p < 0,033) y ROCF variables, como Copiar y Memoria Total mostraron correlación moderada y significativa con la puntuación total de la B-GSS (r = -0,55, p < 0,001; r = -0,44, p < 0,001, respectivamente). Los resultados demuestr...

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The broad autism phenotype in parents of individuals with autism: a systematic review of the literature

Cited by 30 publications

References 52 publications

ASD Validity

ASD Validity

Language abilities in preschool-aged siblings of children with autism spectrum disorders – preliminary report

Visual-Motor Maturity and Executive Functions in Schoolchildren

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