General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report.

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive inherited disorder. Individuals with RCDP have a wide range of neurodevelopmental outcomes, but there are limited descriptions of their early motor development before 5 months of age. This study aimed to describe in detail the age-specific spontaneous movements and examine the developmental functioning in an individual with RCDP. A female infant (born at 39 weeks' gestation), diagnosed with RCDP at 3 weeks of age, was assessed at 4 and 16 weeks for general movements (GMs) and concurrent motor repertoire; the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III) was also applied at the same ages. At 4 weeks, the infant showed poor repertoire GMs, with a detailed General Movement Optimality Score of 16/42. At 16 weeks, age-specific fidgety movements were absent, and the movement character was monotonous and stiff; the detailed Motor Optimality Score was severely reduced (7/28). All Bayley-III scores were <2 SD, that is <70 indicating severe developmental delay. Functional assessments such as the GM assessment and age-specific detailed assessment could be complementary to neuroimaging assessments to predict the neurodevelopmental outcomes in infants with RCDP.