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Attention challenges in Kabuki syndrome.

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Children with Kabuki syndrome (KS) show significantly elevated attention problems, impacting adaptive function. Clinicians should screen for attention deficit hyperactivity disorder (ADHD) in these children.

Keywords:
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Area of Science:

  • Neurodevelopmental disorders
  • Rare genetic diseases
  • Behavioral genetics

Background:

  • Kabuki syndrome (KS) is a rare genetic disorder associated with intellectual disability and neurodevelopmental issues.
  • Previous research indicated attentional deficits in some individuals with KS, but studies were limited by small sample sizes and retrospective data.
  • Standardized assessments are crucial for accurately characterizing neurobehavioral phenotypes in rare genetic conditions.

Purpose of the Study:

  • To investigate the neurobehavioral profile and adaptive functioning in individuals with molecularly confirmed Kabuki syndrome.
  • To compare behavioral assessments of children with KS to their unaffected biological siblings.
  • To identify specific behavioral challenges, such as attention problems, and their correlation with adaptive function in KS.

Main Methods:

  • Fifty-five individuals with molecularly confirmed KS and 23 unaffected siblings underwent standardized behavioral and adaptive function assessments.
  • Caregiver reports were utilized for individuals with KS.
  • Data analysis focused on comparing behavioral categories between the KS group and the control group, and examining correlations between attention and adaptive function.

Main Results:

  • Attention Problems emerged as the only clinically significant behavioral category when averaged across all children with KS.
  • Nearly 50% of children with KS exhibited scores in the problematic range for attention.
  • Children with KS scored significantly higher on nearly all behavioral categories compared to their siblings, with a notable negative correlation between attention problems and adaptive function.

Conclusions:

  • Attentional deficits are significantly more prevalent in children with Kabuki syndrome than in the general population.
  • Attention challenges in KS are negatively correlated with adaptive function, independent of general cognitive ability.
  • Routine screening for attention deficit hyperactivity disorder (ADHD) is recommended for children with Kabuki syndrome to improve care and support.