Dataset Information

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

ABSTRACT:

Background

PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene with a phenotype that includes macrocephaly, cancer predisposition, developmental delay, increased risk for autism spectrum disorder (ASD), and learning difficulties. Studies characterizing neurobehavioral profiles are limited.

Methods

This single-site, retrospective case series was completed in children who have PHTS followed in a cancer predisposition clinic. Demographic and clinical, data were abstracted from the medical record for 12 patients (mean age at clinic entry = 8.83 years; 42% female). Neuropsychological data were abstracted for 3 of 12 patients that were referred for testing (17-year-old female with attention-deficit/hyperactivity disorder [ADHD]; 15-year-old male with academic concerns and ASD, 12-year-old male with academic concerns).

Results

Of the 12 patients, macrocephaly was present in 100%, 58% had developmental delays during early childhood, and 17% had an ASD diagnosis. Results from neuropsychological testing showed Borderline to Average range global intellectual functioning (Standard Score range: 77 to 95) along with deficits in non-verbal reasoning, visual-motor integration, math achievement, and caregiver-rated adaptive skills.

Conclusion

Individuals with PHTS may present with cognitive difficulties that impact everyday functioning, with or without a neurodevelopmental diagnosis. Routine neurocognitive assessment should be considered in management guidelines.

SUBMITTER: Hasler HM

PROVIDER: S-EPMC10117704 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Publications

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Hasler Holly M HM Murray Alise A Canavera Kristin E KE Parris Kendra R KR Nichols Kim E KE Jacola Lisa M LM

Journal of pediatric neuropsychology 20220518 2

<h4>Background</h4>PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene with a phenotype that includes macrocephaly, cancer predisposition, developmental delay, increased risk for autism spectrum disorder (ASD), and learning difficulties. Studies characterizing neurobehavioral profiles are limited.<h4>Methods</h4>This single-site, retrospective case series was completed in children who have PHTS followed ...[more]

PMID: 37090027

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Project description:BackgroundIndividuals with PTEN hamartoma tumor syndrome (PHTS) demonstrate a distinct neurobehavioral profile suggesting primary disruption of frontal lobe symptoms, with more severe cognitive deficits in those with associated autism spectrum disorder (ASD) that extend to other areas of neurobehavioral function as well (e.g., adaptive behavior, sensory deficits). The current study sought to characterize longitudinal neurobehavioral profiles in individuals with PHTS who completed serial assessments (2-3 evaluations) over a 2-year time period.MethodsComprehensive neurobehavioral evaluations were conducted on 92 participants (age range 6-21) with PHTS and/or ASD. Spaghetti plots and linear mixed effects models were used to visualize the individual patient profiles and group trends and examine the group differences in cognitive/behavioral test scores over time. Practice-adjusted reliable change indices (RCIs) and standardized regression-based change scores (SRBs) were calculated for those measures in the battery with adequate sample sizes and test-retest reliabilities for future use in assessing neurobehavioral change in children and young adults with PHTS.ResultsWide individual differences were observed at baseline across all measures. Encouragingly, baseline differences between patient groups persisted at the same magnitude over a 2-year time period with no differences in longitudinal neurobehavioral profiles within any one group. Test-retest reliabilities were generally high, ranging from 0.62 to 0.97, and group mean change from baseline to 12 months was small (range - 3.8 to 3.7). A Microsoft Excel calculator was created that clinicians and researchers can use to automatically calculate RCI and SRB thresholds at both 80% and 90% confidence intervals using test scores from a given child or young adult with PHTS.ConclusionsOur results suggest that the neurobehavioral phenotypes observed in individuals with PHTS remain relatively stable over time, even in those with ASD. The RCIs and SRBs provided can be used in future research to examine patient outcomes at the individual level as well as to detect negative deviations from the expected trajectory that can be used to inform intervention strategies.

Dataset Information

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Background

Methods

Results

Conclusion

Publications

Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Similar Datasets

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