Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

Baker, Emma K.; Godler, David E.; Bui, Minh; Hickerton, Chriselle; Rogers, Carolyn; Field, Mike; Amor, David J.; Bretherton, Lesley

doi:10.1186/s11689-018-9242-0

Cited by 31 publications

(34 citation statements)

References 31 publications

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“…It is possible that poor verbal communication skills, severe ID, or other medical comorbidities limit the feasibility of formal testing. In addition, it has been recognized in genetic NDDs that unique cognitive and behavioral presentations may limit the reliability of standardized testing 28‐30 . Familiarity and availability of cognitive and behavioral testing may also vary across the different settings of recruitment.…”

Section: Discussionmentioning

confidence: 99%

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

Hanly

Shah

et al. 2020

Clinical Genetics

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Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions including intellectual disability, global developmental delay, autism spectrum disorder, and attention deficit hyperactivity disorder. Advances in genetic diagnostic technology have led to the identification of a number of NDD‐associated genes, but reports of cognitive and developmental outcomes in affected individuals have been variable. The objective of this scoping review is to synthesize available information pertaining to the developmental outcomes of individuals with pathogenic variants in ten emerging recurrent NDD‐associated genes identified from large scale sequencing studies; ADNP, ANKRD11, ARID1B, CHD2, CHD8, CTNNB1, DDX3X, DYRK1A, SCN2A, and SYNGAP1. After a comprehensive search, 260 articles were selected that reported on neurodevelopmental measures or diagnoses. We identify the spectrum of developmental outcomes for each genetic NDD, including prevalence of intellectual disability, frequency of co‐morbid NDDs such as ADHD and autism, and commonly reported medical issues that can help inform diagnosis and treatment. There are significant gaps in our understanding of the natural history of these conditions. Future research focusing on barriers to assessment, the development of modified assessment tools appropriate for long‐term outcomes in genetic NDD, and collection of longitudinal data will increase understanding of prognosis in these conditions and inform evaluations of treatment.

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Section: Discussionmentioning

confidence: 99%

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

Hanly

Shah

et al. 2020

Clinical Genetics

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“…Angelman syndrome (AS), Prader–Willi syndrome (PWS) and chromosome 15 duplication syndrome (Dup15q) are neurodevelopmental disorders that are associated with varying degrees of intellectual disability (ID) and social communication deficits 1 , 2 , and arise from different deletions or duplications at the 15q11–q13 imprinted region 3 .…”

Section: Introductionmentioning

confidence: 99%

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

et al. 2020

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Chromosome 15 (C15) imprinting disorders including Prader–Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11–q13 region, associated with abnormal DNA methylation and/or copy number changes. This study compared changes in mRNA levels of UBE3A and SNORD116 located within the 15q11–q13 region between these disorders and their subtypes and related these to the clinical phenotypes. The study cohort included 58 participants affected with a C15 imprinting disorder (PWS = 27, AS = 21, Dup15q = 10) and 20 typically developing controls. Semi-quantitative analysis of mRNA from peripheral blood mononuclear cells (PBMCs) was performed using reverse transcription droplet digital polymerase chain reaction (PCR) for UBE3A and SNORD116 normalised to a panel of internal control genes determined using the geNorm approach. Participants completed an intellectual/developmental functioning assessment and the Autism Diagnostic Observation Schedule-2nd Edition. The Dup15q group was the only condition with significantly increased UBE3A mRNA levels when compared to the control group (p < 0.001). Both the AS and Dup15q groups also had significantly elevated SNORD116 mRNA levels compared to controls (AS: p < 0.0001; Dup15q: p = 0.002). Both UBE3A and SNORD116 mRNA levels were positively correlated with all developmental functioning scores in the deletion AS group (p < 0.001), and autism features (p < 0.001) in the non-deletion PWS group. The findings suggest presence of novel interactions between expression of UBE3A and SNORD116 in PBMCs and brain specific processes underlying motor and language impairments and autism features in these disorders.

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“…However, intellectual functioning is classified as borderline normal in some individuals . Difficulties with social communication and reciprocity from early childhood are commonly reported for individuals with PWS, with difficulties in establishing social relationships also described in the literature …”

Section: Resultsmentioning

confidence: 99%

“…The behavioural profile of PWS also includes restricted or repetitive behaviours . Combined with difficulties in social functioning, these behaviours are sufficient for a concurrent diagnosis of autism spectrum disorder in approximately a quarter (26.5%, n = 786) of individuals with PWS .…”

Section: Resultsmentioning

confidence: 99%

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

Mackay

McCallum

Ambler

et al. 2019

J Paediatrics Child Health

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Prader‐Willi syndrome (PWS) is a rare genetic condition with multi‐system involvement. The literature was reviewed to describe neurodevelopment and the behavioural phenotype, endocrine and metabolic disorders and respiratory and sleep functioning. Implications for child and family quality of life were explored. Challenging behaviours contribute to poorer well‐being and quality of life for both the child and caregiver. Recent evidence indicates healthy outcomes of weight and height can be achieved with growth hormone therapy and dietary restriction and should be the current target for all individuals with PWS. Gaps in the literature included therapies to manage challenging behaviours, as well as understanding the effects of growth hormone on respiratory and sleep function. New knowledge regarding the transition of children and families from schooling and paediatric health services to employment, accommodation and adult health services is also needed. Developing a national population‐based registry could address these knowledge gaps and inform advocacy for support services that improve the well‐being of individuals with PWS and their families.

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Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

Cited by 31 publications

References 31 publications

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

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