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.
Objective Subependymal heterotopia (SH) is a development brain malformation from abnormal neuronal proliferation and migration resulting in developmental delays and focal childhood epilepsy (Barkovich, 2000). SH results from the interruption of normal gray matter migration beneath the ependyma of the lateral ventricles. Most males are spontaneously aborted, and although there is some genetic uncertainty, affected females are thought to be X-linked (Xq28) recessive (Mitchell, et.al., 2000). SH prevalence in epileptic children with brain dysgenesis is between 13-20% and manifests in motor, visual-spatial, cognitive, and psychological deficits (Data, et.al., 2018). Method We present a case study of a seventeen-year-old female who was diagnosed at age eight with ADD and LD by self-report check-lists and achievement tests. Behavioral irregularities and seizure onset lead pediatrics to request neuropsychological testing. Findings revealed cognitive and emotional impairment and consequently further medical evaluation was recommended. Pediatric, neurological, and psychiatric examination, EEG, and MRI confirmed SH along the lateral margin of the right lateral ventricle. Results Psychometric testing revealed low average FSIQ, PRI, and PSI, impaired arithmetic operations and problem solving, graphomotor deficits, motor speed and executive/planning difficulties, emotional dysregulation, age-inappropriate interpersonal skills, and social-behavioral regression. Conclusions Neuropsychological assessment provided clear evidence of cognitive impairment beyond the initial diagnoses, suggested lateralized dysfunction, and implicated frontal and subcortical behavioral correlates not explained by other dispositional variables. Comprehensive neuropsychological assessment provided detailed information toward conjoint treatment planning by pediatrics, neurology, psychology, psychiatry, and teachers. Findings provided meaningful diagnostic clarification of SH and furthered clinical understanding of this adolescent’s social, academic, neuropsychological, and psychiatric needs.
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