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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.
Background:
Severe to profound intellectual disability (SPID) is associated with multiple neurodevelopmental disorders and problems. In the most severe cases, the term profound intellectual and multiple disabilities (PIMD) is used. This study aimed to explore the co-occurring disorders and neurodevelopmental problems in a sample of twins where the proband had SPID.
Method:
Within a population-based sample of (30 312) twins, 20 individuals with a national patient register SPID diagnosis were identified. Parent telephone interview data (screening of neurodevelopmental disorders) and register data (APGAR, birth weight, intellectual disabilities, epilepsy, motor and sensory disorders) were gathered for probands and co-twins.
Results:
The 20 individuals with SPID all had between one and five additional disorders or problems, with autistic traits, motor problems and epilepsy being the most common. Clear discordance was found for ID and all additional disorders and problems between probands with SPID and their non-SPID co-twins.
Conclusion:
Children with SPID almost never present without neurodevelopmental and/or sensory and/or motor comorbidities. This heterogeneity should be reflected in clinical routine and in research targeting individuals with SPID. The results support a previously suggested conceptualization of a S/PIMD "spectrum". Autism may be considered for inclusion in future elaborations of such a S/PIMD spectrum.
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