Skip to main content

Cognition in rare hormonal disorder

Feb. 13, 2018, 8:00 AM

PHP1A (pseudohypoparathyroidism 1A) is a rare genetic disorder that causes short adult stature, multi-hormone resistance, early-onset obesity and cognitive impairment.

Although cognitive impairment is common in patients with PHP1A, there is no information about the severity or specific areas of deficit, limiting the opportunities for appropriate early intervention.

Ashley Shoemaker, MD, MSCI, and colleagues conducted the first systematic evaluation of cognitive function, executive function and adaptive behavior in children with PHP1A. The investigators tested patients with PHP1A, unaffected siblings and controls matched for age, gender, race and body mass index, and they analyzed parent questionnaires.

Patients with PHP1A had lower IQ scores, poorer executive function, delayed adaptive behavior skills and increased behavior problems. They also had increased rates of attention deficit hyperactivity disorder.

The findings were reported in the February American Journal of Medical Genetics. The authors recommend that all children with PHP1A be evaluated by early intervention specialists.

This research was supported by the National Institutes of Health (grants DK101689, DK046718, TR000445).

Send suggestions for articles to highlight in Aliquots and any other feedback about the column to aliquots@vanderbilt.edu

Recent Stories from VUMC News and Communications Publications

Our amazing skin

Vanderbilt Medicine

Our amazing skin

Biology and the beat

Vanderbilt Medicine

Biology and the beat

Community care

Vanderbilt Nurse

Community care

Survive and thrive

Hope

Survive and thrive

more