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Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo

C Wolfenden1, A Wittkowski2,3, D J Hare4

  • 1Division of Psychology and Mental Health, School of Health Sciences, The University of Manchester and Manchester Acedemic Health Science Centre, Oxford Road, Manchester, M13 9PL, UK.

Journal of Autism and Developmental Disorders
|September 1, 2017
PubMed

Insights

Autism spectrum disorder (ASD) symptoms, particularly in speech and communication, are present in Mucopolysaccharidosis type III (MPS III). Recognizing these ASD-like symptoms is crucial for timely MPS III diagnosis and treatment.

Area of Science:

  • Neurodevelopmental Disorders
  • Metabolic Disorders
  • Genetics

Background:

  • Autism spectrum disorder (ASD) prevalence is known in many genetic disorders.
  • Mucopolysaccharidosis type III (MPS III) is a rare, recessively inherited metabolic disorder.
  • Emerging evidence suggests ASD symptoms manifest in individuals with MPS III.

Purpose of the Study:

  • To systematically review and assess the literature on ASD symptoms in MPS III.
  • To identify the prevalence and characteristics of ASD symptoms within the MPS III population.
  • To evaluate the impact of ASD symptoms on MPS III diagnosis and management.

Main Methods:

  • Systematic review of existing literature.
  • Quality assessment of 16 relevant studies.
  • Analysis of reported symptoms related to ASD in MPS III patients.

Main Results:

  • Difficulties in speech, language, and communication, consistent with ASD, were frequently reported in MPS III.
  • Repetitive behaviors and restricted interests, also characteristic of ASD, were less commonly documented.
  • The presence of ASD-like symptoms can lead to delayed or incorrect diagnosis of MPS III.

Conclusions:

  • Individuals with MPS III frequently exhibit ASD-like communication and language challenges.
  • The overlap in symptoms may hinder accurate and timely diagnosis of MPS III.
  • Early identification of ASD symptoms in MPS III is vital for appropriate genetic counseling and therapeutic interventions.
Keywords:
ASDBehavioural difficultiesDevelopmental disorderLysosomal storage disorderMucopolysacchardosisSpeech/language delay

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