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Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A
Katia M Perez1, Evon B Lee2, Sachini Kahanda3
1Wake Forest School of Medicine, Winston-Salem, North Carolina.
Insights
Children with Pseudohypoparathyroidism 1A (PHP1A) experience significant cognitive deficits, including lower IQ scores and impaired executive function compared to controls. This rare genetic disorder impacts adaptive behaviors and increases the likelihood of attention deficit hyperactivity disorder.
Area of Science:
- Pediatric Endocrinology
- Neurodevelopmental Disorders
- Genetics
Background:
- Pseudohypoparathyroidism 1A (PHP1A) is a rare genetic disorder.
- Cognitive impairment is common in PHP1A but not well-characterized.
- Systematic evaluation of cognition in PHP1A is needed.
Purpose of the Study:
- To investigate cognitive and executive function deficits in children with PHP1A.
- To compare intellectual quotient (IQ) scores of children with PHP1A to unaffected siblings and matched controls.
- To assess behavioral and adaptive functioning in children with PHP1A.
Main Methods:
- Prospective enrollment of children with PHP1A, unaffected siblings, and matched controls.
- Cognitive and executive function testing administered to participants.
- Parental questionnaires assessing behavior and executive function completed.
Main Results:
- Children with PHP1A demonstrated significantly lower composite IQ scores than both controls and unaffected siblings.
- Deficits in executive function were observed in the PHP1A group.
- Parents reported delayed adaptive behavior skills and higher rates of ADHD in children with PHP1A.
Conclusions:
- Children with PHP1A exhibit lower IQ scores and poorer executive function.
- PHP1A is associated with delayed adaptive behavior and increased behavioral problems.
- Early identification and intervention for cognitive and behavioral issues are crucial for children with PHP1A.
Abstract:
Pseudohypoparathyroidism 1A (PHP1A) is a rare, genetic disorder. Most patients with PHP1A have cognitive impairment but this has not been systematically studied. We hypothesized that children with PHP1A would have lower intelligent quotient (IQ) scores than controls. To evaluate cognition and behavior, we prospectively enrolled children with PHP1A, one unaffected sibling (when available) and controls matched on BMI/age/gender/race. Evaluations included cognitive and executive function testing. Parents completed questionnaires on behavior and executive function. We enrolled 16 patients with PHP1A, 8 unaffected siblings, and 15 controls. Results are presented as mean (SD). The PHP1A group had a composite IQ of 85.9 (17.2); 25% had a composite IQ < -2 SD. The PHP1A group had significantly lower IQs than matched controls (composite IQ -17.3, 95%CI -28.1 to -6.5, p < 0.01) and unaffected siblings (composite IQ -21.5, 95%CI -33.9 to -9.1, p < 0.01). Special education services were utilized for 93% of the patients with PHP1A. Deficits were observed in executive function and parents reported delayed adaptive behavior skills and increased rates of attention deficit hyperactivity disorder. In conclusion, children with PHP1A have lower intelligence quotient scores, poorer executive function, delayed adaptive behavior skills, and increased behavior problems.
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