Research Review: What is the association between the social‐communication element of autism and repetitive interests, behaviours and activities?

Mandy, William; Skuse, David

doi:10.1111/j.1469-7610.2008.01911.x

Cited by 153 publications

(157 citation statements)

References 70 publications

(106 reference statements)

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“…1 Distinguishing features are the presence of abnormalities in socialization and quality of communication in ASD. 25 In cases where the diagnosis is in doubt, one must examine the child's total functioning through standardized ASD assessments.…”

Section: Differentiation Of Smd From Other Disordersmentioning

confidence: 99%

Stereotypic movement disorder: easily missed

Fréeman

Soltanifar

Baer

2010

Develop Med Child Neuro

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Aim To expand the understanding of stereotypic movement disorder (SMD) and its differentiation from tics and autistic stereotypies.Method Forty‐two children (31 males, mean age 6y 3mo, SD 2y 8mo; 11 females, mean age 6y 7mo, SD 1y 9mo) consecutively diagnosed with SMD, without‐self‐injurious behavior, intellectual disability, sensory impairment, or an autistic spectrum disorder (ASD), were assessed in a neuropsychiatry clinic. A list of probe questions on the nature of the stereotypy was administered to parents (and to children if developmentally ready). Questionnaires administered included the Stereotypy Severity Scale, Short Sensory Profile, Strengths and Difficulties Questionnaire, Repetitive Behavior Scale – Revised, and the Developmental Coordination Disorder Questionnaire. The stereotyped movement patterns were directly observed and in some cases further documented by video recordings made by parents. The probe questions were used again on follow‐up at a mean age of 10 years 7 months (SD 4y 4mo).Results Mean age at onset was 17 months. Males exceeded females by 3:1. Family history of a pattern of SMD was reported in 13 and neuropsychiatric comorbidity in 30 (attention‐deficit–hyperactivity disorder in 16, tics in 18, and developmental coordination disorder in 16). Obsessive–compulsive disorder occurred in only two. The Short Sensory Profile correlated with comorbidity (p<0.001), the Stereotypy Severity Scale (p=0.009), and the Repetitive Behavior Scale (p<0.001); the last correlated with the Stereotypy Severity Scale (p=0.001). Children (but not their parents) liked their movements, which were usually associated with excitement or imaginative play. Mean length of follow‐up was 4 years 8 months (SD 2y 10mo). Of the 39 children followed for longer than 6 months, the behavior stopped or was gradually shaped so as to occur primarily privately in 25. Misdiagnosis was common: 26 were initially referred as tics, 10 as ASD, five as compulsions, and one as epilepsy. Co‐occurring facial grimacing in 15 children and vocalization in 22 contributed to diagnostic confusion.Interpretation SMD occurs in children without ASD or intellectual disability. The generally favorable clinical course is largely due to a gradual increase in private expression of the movements. Severity of the stereotypy is associated with sensory differences and psychopathology. Differentiation of SMD from tics and ASD is important to avoid misdiagnosis and unnecessary treatment.

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Section: Differentiation Of Smd From Other Disordersmentioning

confidence: 99%

Stereotypic movement disorder: easily missed

Fréeman

Soltanifar

Baer

2010

Develop Med Child Neuro

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“…In fact, a number of family studies in ASD have shown that genes controlling RRB are independent of genes controlling social or communication impairments (Mandy & Skuse, 2008). Similarly, among the neuroanatomical correlates of ASD symptoms (Bellani et al 2013a, b), RRB have been frequently associated with structural alterations of the basal ganglia (BG), the deep grey matter structures that include the caudate nucleus, the putamen and the globus pallidus.…”

mentioning

confidence: 99%

“…In fact, a number of family studies in ASD have shown that genes controlling RRB are independent of genes controlling social or communication impairments (Mandy & Skuse, 2008 …”

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Basal ganglia and restricted and repetitive behaviours in Autism Spectrum Disorders: current status and future perspectives

Calderoni

Bellani

et al. 2014

Epidemiol Psychiatr Sci

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This Section of Epidemiology and Psychiatric Sciences appears in each issue of the Journal to stress the relevance of epidemiology for behavioural neurosciences, reporting the results of studies that explore the use of an epidemiological approach to provide a better understanding of the neural basis of major psychiatric disorders and, in turn, the utilisation of the behavioural neurosciences for promoting innovative epidemiological research.The ultimate aim is to help the translation of most relevant research findings into every-day clinical practice. These contributions are written in house by the journal's editorial team or commissioned by the Section Editor (no more than 1000 words, short unstructured abstract, four key-words, one Table or This editorial offers a concise overview of the recent structural magnetic resonance imaging studies that evaluate the basal ganglia (BG) volumes in autism spectrum disorders (ASD). The putative relationship between the repetitive or stereotyped behaviours of ASD and BG volumes is also explored, with a focus on possible translational approaches. Under the umbrella category of autism spectrum disorder (ASD) are included neurodevelopmental conditions with a high genetic and phenotypic heterogeneity, but shared by a symptom dyad: (1) deficits in social communication and interactions; and (2) repetitive patterns of behaviour, interests and activities (Diagnostic and Statistical Manual of Mental Disorders, DSM-5; American Psychiatric Association, 2013). The modifications of the diagnostic criteria included in the current version of DSM have enhanced the role of the second domain: in fact, the restricted and repetitive behaviours (RRB), once considered non-ASD specific and subordinate to the socio-communication deficit, are now required for an ASD diagnosis.Recent ASD research attempted to investigate whether the social communication and RRB dimensions are correlated with distinct endophenotypes and genotypes. In fact, a number of family studies in ASD have shown that genes controlling RRB are independent of genes controlling social or communication impairments (Mandy & Skuse, 2008

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“…The syndrome view assumes that social-communication deficits and RRBs co-occur at high rates, and bear some causal relationship. Recent theorists (Mandy and Skuse, 2008;Ronald, Happe, and Plomin, 2005) have argued that the two key features are not necessarily causally related and should be studied independently.…”

Section: Coherence Of the Syndromementioning

confidence: 99%

“…First is a basic question about the coherence of the behavioral syndrome (explored by Hobson, 2014, andRutter, 2014, in an issue of Autism [vol. 18] devoted to this topic, and Mandy and Skuse, 2008). If there is no coherence, then looking for a unified etiology or pathophysiology is pointless.…”

Section: Introductionmentioning

confidence: 99%

Facilitating Autism Research

Fein

Helt

2017

J Int Neuropsychol Soc

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Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903-915)

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Research Review: What is the association between the social‐communication element of autism and repetitive interests, behaviours and activities?

Cited by 153 publications

References 70 publications

Stereotypic movement disorder: easily missed

Stereotypic movement disorder: easily missed

Basal ganglia and restricted and repetitive behaviours in Autism Spectrum Disorders: current status and future perspectives

Facilitating Autism Research

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