Speech-language characteristics of children with Sotos syndrome

Ball, Laura J.; Sullivan, Marsha; Dulany, Susan; Stading, Korey; Schaefer, Gerald

doi:10.1002/ajmg.a.30799

Cited by 13 publications

(16 citation statements)

References 18 publications

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“…However, as level of intellectual functioning was not reported, it is difficult to establish whether delays were relative or absolute. Ball, Sullivan, Dulany & Schaefer [ 39 ] found that participants had both expressive and receptive language impairments. However, Mouridsen & Hansen [ 33 ], Scarpa, Fraggioloi & Voghenzi [ 40 ] and Zechner et al [ 41 ] reported delays in expressive but not receptive language.…”

Section: Resultsmentioning

confidence: 99%

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

2016

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BackgroundResearch investigating cognition and behaviour in Sotos syndrome has been sporadic and to date, there is no published overview of study findings.MethodA systematic review of all published literature (1964–2015) presenting empirical data on cognition and behaviour in Sotos syndrome. Thirty four journal articles met inclusion criteria. Within this literature, data relating to cognition and/or behaviour in 247 individuals with a diagnosis of Sotos syndrome were reported. Ten papers reported group data on cognition and/or behaviour. The remaining papers employed a case study design.ResultsIntelligence quotient (IQ) scores were reported in twenty five studies. Intellectual disability (IQ < 70) or borderline intellectual functioning (IQ 70–84) was present in the vast majority of individuals with Sotos syndrome. Seven studies reported performance on subscales of intelligence tests. Data from these studies indicate that verbal IQ scores are consistently higher than performance IQ scores. Fourteen papers provided data on behavioural features of individuals with Sotos syndrome. Key themes that emerged in the behavioural literature were overlap with ASD, ADHD, anxiety and high prevalence of aggression/tantrums.ConclusionAlthough a range of studies have provided insight into cognition and behaviour in Sotos syndrome, specific profiles have not yet been fully specified. Recommendations for future research are provided.

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Section: Resultsmentioning

confidence: 99%

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

2016

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“…All individuals with the CNV manifest behavioral and/or cognitive symptoms, but only three are described as having either an ASD-like or Sotos-like phenotype (Table S9). Individuals with Sotos syndrome are characterized by pre-and postnatal overgrowth, characteristic facial features, learning disability including delayed language development, 57 and sometimes ASD or ASD-like behavior. 58 Combining AGRE, SSC (2,591 affected individuals and 2,100 siblings), 13 AGP ASD samples (941 non-overlapping affected individuals), 23 and filtered DGV data (27,263 population samples) revealed an association between the 2q24.1 deletion and ASD (p ¼ 0.020, Fisher's exact test).…”

Section: Cnvs In Asd-associated Genes and Candidate Genesmentioning

confidence: 99%

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Leppä

Kravitz

Martin

et al. 2016

The American Journal of Human Genetics

202

132

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Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts.

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“…The literature on the behavioral phenotype of Sotos syndrome is limited to a small number of studies investigating the cognitive and behavioral characteristics via case and cohort studies. Of the behaviors recorded, the most widely reported include communication impairments [e.g., Ball et al, ], atypical social behavior [e.g., Rutter and Cole, ; Sarimski, ], ADHD and hyperactivity [e.g., Varley and Crnic, ; Finegan et al, ] with over half of all studies reporting these behaviors.…”

Section: Introductionmentioning

confidence: 99%

“…Studies investigating communication and language skills in Sotos syndrome indicate characteristic difficulties in speech articulation including delayed or no speech development [Morrow et al, ; Compton et al, ; Okamoto et al, ] and limited expressive language [Bale et al, ; Mauceri et al, ; Mouridsen and Hansen, ]. The most extensive cohort study by Ball et al [] reported that individuals with Sotos syndrome showed greater impairments in expressive and receptive language compared to the normative sample. In contrast, two cohort studies [Finegan et al, ; Sarimski, ] found there to be no deficits in language.…”

Section: Introductionmentioning

confidence: 99%

The behavioral characteristics of Sotos syndrome

Sheth

Moss

Hyland

et al. 2015

American J of Med Genetics Pt A

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In this study we describe the levels of clinically significant behavior in participants with Sotos syndrome relative to three matched contrast groups in which the behavioral phenotype is well documented (Autism Spectrum Disorder, ASD; Prader-Willi, and Down syndromes). Parents and carers of 38 individuals with Sotos syndrome (mean age = 17.3; SD = 9.36), completed questionnaires regarding self-injury, aggression, repetitive behavior, autism spectrum phenomenology, overactivity, impulsivity and mood, interest and pleasure. Individuals with Sotos syndrome showed an increased risk of self-injurious behavior, physical aggression, and destruction of property relative to the Down syndrome group but not a greater risk of stereotyped behavior. Impulsivity and levels of activity were also significantly higher relative to those with Down syndrome and comparable to those with ASD. A large proportion of participants met the cut off score for ASD (70.3%) and Autism (32.4%) on the Social Communication Questionnaire. Social impairments were particularly prominent with repetitive behavior and communication impairments less characteristic of the syndrome. Interestingly, preference for routine and repetitive language were heightened in individuals with Sotos syndrome and the repetitive behavior profile was strikingly similar to that observed in individuals with Prader-Willi syndrome. These findings build upon previous research and provide further evidence of the behavioral phenotype associated with Sotos syndrome.

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Speech-language characteristics of children with Sotos syndrome

Cited by 13 publications

References 18 publications

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

Cognition and Behaviour in Sotos Syndrome: A Systematic Review

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

The behavioral characteristics of Sotos syndrome

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