Neuropsychological Functioning in Congenital Myopathy


Real World Data - Disease registries, natural history, post marketing surveillance

Poster Number: 156


Andrea Miele, PhD


1. Children's Hospital Colorado

Cognition and social-emotional functioning in the Congenital Myopathies are understudied. Where described, discussion is limited to report of “normal” intellectual functioning; however, details about the rigor of any assessment are sparse.

Discuss results from comprehensive neuropsychological evaluation of four children with congenital myopathy with regard to emotional functioning and diagnostic conditions that affect school performance.

GP is an 8-year-old girl with RYRI-related myopathy. AM and LS are 9 and 10-year-old boys also with RYR1-related myopathy. LC is a 10-year-old boy with TPM3-related myopathy, which is extremely rare. Children completed comprehensive neuropsychological evaluations by this writer after being referred by their care team.

Each child displayed a unique neuropsychological profile. Intellectual functioning emerged in the Low Average to Average range across children. One child met criteria for ADHD and concerns related to anxiety and depression were reported. One child met criteria for Learning Disabilities in reading, math, and written expression but no social-emotional concerns were reported. One child met criteria for a Learning Disability only in math and parents were concerned about depression. One child’s profile was consistent with a Nonverbal Learning Disability, and this child also struggled with math and had mild anxiety.

Children with Congenital Myopathy display a range of neurocognitive strengths and weaknesses. Children are at increased risk for Learning Disabilities, especially in math, but reading problems can exist as well. Children can also have attention regulation difficulties (ADHD) and no learning problems. Finally, parents of children with Congenital Myopathy report an increased number of symptoms of anxiety and depression compared to same-age peers. Comprehensive neuropsychological assessment is important for children with Congenital Myopathy to promote academic achievement and support social-emotional functioning, no matter the genetic etiology.