A-154 Chromosome 18q Deletion & Chromosome 18p Duplication: A Neuropsychological Case Study

Abstract

Abstract Objective: The client presents with partial deletion of chromosome 18q and partial duplication of chromosome 18p, occurring in 1 in 55,000 individuals and less than 1 in 1,000,000 individuals, respectively. Deletions of chromosome 18q are often characterized by hypotonia, seizures, psychomotor retardation, and intellectual disability. Duplications of chromosome 18p are characterized by intellectual disability, epilepsy, hypotonia, developmental delay, and attention deficits. Method: The client is a 5-year-old male, who was diagnosed with the above-mentioned genetic disorders and Chiari malformation at age 2. Additionally, the client presents with a speech delay and low muscle tone. The client’s parents sought testing to clarify his cognitive and emotional functioning in light of his genetic disorders to inform treatment and supports. Results: Nonverbal intellectual assessment was in the average range. Academic achievement noted low average reading skills, impaired math abilities, and borderline impaired spelling. Neuropsychologically, impairments were noted in verbal memory, simple auditory attention, semantic fluency, visual perception, motor coordination, visual motor integration, and affect recognition. Mild to moderate inefficiencies were in visual memory, auditory comprehension of instructions, response inhibition, fine motor dexterity, and perspective taking. Otherwise, the client performed in the average range on tasks of behavioral inhibition and persistence, expressive language, and receptive language. Conclusions: Given the limited literature, it is expected these genetic disorders will be associated with intellectual disabilities and attentional difficulties. However, the client’s IQ is in the average range, and he presents with potential learning disorders in reading, writing, and mathematics with associated attention, memory, visual-motor, verbal fluency, and social perception difficulties.