Exploring co-occurrence of sensory, motor and neurodevelopmental problems and epilepsy in children with

Anna Rensfeldt Flink1, Petra Boström2, Christopher Gillberg3

  • 1Department of Health and Rehabilitation, University of Gothenburg, Gothenburg, Sweden; Habilitation and Health, Region Västra Götaland, Gothenburg, Sweden.

Insights

Children with severe to profound intellectual disability (SPID) frequently have co-occurring conditions like autism, motor issues, and epilepsy. These comorbidities highlight the need to view SPID as a spectrum, potentially including autism.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Pediatrics

Background:

  • Severe to profound intellectual disability (SPID) is linked to numerous neurodevelopmental disorders.
  • Profound intellectual and multiple disabilities (PIMD) represents the most severe end of the spectrum.
  • Understanding comorbidities in SPID is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate co-occurring disorders and neurodevelopmental problems in twins with SPID.
  • To analyze the heterogeneity of conditions associated with SPID.
  • To explore the potential for a broader SPID/PIMD spectrum.

Main Methods:

  • Analysis of a population-based twin sample (30,312 twins).
  • Identification of 20 probands with a national register diagnosis of SPID.
  • Data collection via parent interviews and national patient registers.

Main Results:

  • All 20 SPID individuals had 1-5 additional disorders/problems.
  • Autistic traits, motor problems, and epilepsy were most common comorbidities.
  • Significant discordance in ID and comorbidities was observed between SPID probands and their co-twins.

Conclusions:

  • SPID rarely occurs in isolation; comorbidities are nearly universal.
  • Clinical practice and research should acknowledge the heterogeneity of SPID.
  • Findings support a SPID/PIMD spectrum concept, potentially including autism.
Abstract

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