A-193 Comprehensive Neuropsychological Assessment of a Nine-year-old Child with a Rare Congenital Growth Hormone Deficiency: A Case Study of Cognitive Dysfunction Accompanying the IGF-1-R Mutation

Abstract

Objective The insulin growth factor 1 receptor (IGF-1-R) gene plays a pivotal role in human growth and development (Kannian & Ryan, 2019). Heterozygous IGF-1-R mutations represent a rare subtype of congenital growth hormone deficiencies (Abuzzahab et al., 2003). The very few cases that have been reported implicate lower volume in brain structures that include the splenium, right global pallidus, hippocampus, and left thalamus (Webb et al., 2012). As a result, physical anomalies in children are expressed through short stature, microcephaly, and atypical facial morphology, as well as intellectual and academic deficits (Essakow et al., 2016; Webb et al., 2012). Given the limited case studies of this gene mutation, the neuropsychological implications are unclear (Yang et al., 2019). Method This case study is of a nine-year-old male child with mild physical anomalies, fine motor deficits, inattention, and cognitive delay, referred by pediatrics for differential diagnoses of impaired cognition vs. amotivation vs. emotional-behavioral problems. Impairment on an initial educational screening evaluation indicated the need for a more comprehensive and broad-based assessment which is presented here. Results Findings revealed cognitive impairment on measures of intellect, fine motor integration, complex and sustained attention and vigilance, executive functioning, memory, learning, language comprehension, phonological knowledge, encoding, decoding, reading comprehension, and arithmetic. Emotional testing was normal. Conclusion Neuropsychological assessment provided detailed information for pediatricians, parents, teachers, and allied health providers for treatment planning, and led to genetic testing that confirmed the diagnosis of the rare IGF-1-R mutation and furthered clinical understanding of this child’s social, academic, and neuropsychological needs.