A clinician‐administered observation and corresponding caregiver interview capturing DSM‐5 sensory reactivity symptoms in children with ASD

Siper, Paige M.; Kolevzon, Alexander; Wang, A. Ting; Buxbaum, Joseph D.; Tavassoli, Teresa

doi:10.1002/aur.1750

Cited by 72 publications

(75 citation statements)

References 30 publications

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“…Among the different sensory modalities, the most affected ones are usually hearing and touch (Tomchek and Dunn, 2007 ; Ashburner et al, 2008 ; Wiggins et al, 2009 ; Fernández-Andrés et al, 2015 ), especially auditory filtering and tactile sensitivity, which has also been found using objective direct assessment (Tavassoli et al, 2016 ), performance-based measures (Stewart et al, 2016 ), and assessment that combines clinical-administered observation and caregiver interviews (Siper et al, 2017 ). This impairment has been found to influence the severity of the restricted and repetitive behaviors displayed by people with ASD (Kargas et al, 2015 ).…”

Section: Introductionmentioning

confidence: 99%

Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts

et al. 2017

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Children with neurodevelopmental disorders often show impairments in sensory processing (SP) and higher functions. The main objective of this study was to compare SP, praxis and social participation (SOC) in four groups of children: ASD Group (n = 21), ADHD Group (n = 21), ASD+ADHD Group (n = 21), and Comparison Group (n = 27). Participants were the parents and teachers of these children who were 5–8 years old (M = 6.32). They completed the Sensory Processing Measure (SPM) to evaluate the sensory profile, praxis and SOC of the children in both the home and classroom contexts. In the home context, the most affected was the ASD+ADHD group. The ADHD group obtained higher scores than the ASD group on the Body Awareness (BOD) subscale, indicating a higher level of dysfunction. The ASD group, however, did not obtain higher scores than the ADHD group on any subscale. In the classroom context, the most affected were the two ASD groups: the ASD+ADHD group obtained higher scores than the ADHD group on the Hearing (HEA) and Social Participation (SOC) subscales, and the ASD group obtained higher scores than the ADHD group on the SOC subscale. Regarding sensory modalities, difficulties in proprioception seem to be more characteristic to the ADHD condition. As for higher-level functioning, social difficulties seem to be more characteristic to the ASD condition. Differences between the two contexts were only found in the ASD group, which could be related to contextual hyperselectivity, an inherent autistic feature. Despite possible individual differences, specific intervention programs should be developed to improve the sensory challenges faced by children with different diagnoses.

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Section: Introductionmentioning

confidence: 99%

Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts

et al. 2017

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“…Sensory processing was assessed using the Short Sensory Profile [ 41 ] and the Sensory Assessment for Neurodevelopmental Disorders (SAND) [ 42 ]. The Short Sensory Profile is a 38-item caregiver report form that investigates daily life sensory experiences.…”

Section: Methodsmentioning

confidence: 99%

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

et al. 2018

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BackgroundPhelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking.MethodsWe provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information.ResultsSHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems.ConclusionsHaploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3.Electronic supplementary materialThe online version of this article (10.1186/s13229-018-0205-9) contains supplementary material, which is available to authorized users.

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“…For our primary replication analysis, we obtained teeth and supporting data from 25 ASD cases and 25 gender-matched controls enrolled in a long-term pregnancy cohort in the UK—the Avon Longitudinal Study of Parents and Children (ALSPAC) ( 25 ). We undertook additional replication analysis by including ASD-diagnosed individuals ( n = 10) at an autism clinic in New York, USA and their unaffected siblings ( n = 8) ( 26 ). Finally, we enrolled a random sample of 25 cases and 25 controls from a community-based study in Texas, USA—the Autism Tooth Fairy Project—that collects teeth and supporting data from parents through a community network ( 27 ).…”

Section: Methodsmentioning

confidence: 99%

Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder

et al. 2018

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A clinician‐administered observation and corresponding caregiver interview capturing DSM‐5 sensory reactivity symptoms in children with ASD

Cited by 72 publications

References 30 publications

Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts

Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Dynamical features in fetal and postnatal zinc-copper metabolic cycles predict the emergence of autism spectrum disorder

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