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Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
Dhawan, Andrew; Baitamouni, Sarah; Liu, Darren; Busch, Robyn; Klaas, Patricia; Frazier, Thomas W; Srivastava, Siddharth; Parikh, Sumit; Hsich, Gary E; Friedman, Neil R; Ritter, David M; Hardan, Antonio Y; Martinez-Agosto, Julian A; Sahin, Mustafa; Eng, Charis.
Afiliación
  • Dhawan A; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
  • Baitamouni S; Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
  • Liu D; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
  • Busch R; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
  • Klaas P; Department of Neurology and Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
  • Frazier TW; Department of Neurology and Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
  • Srivastava S; Department of Psychology, John Carroll University, University Heights, Ohio, 44118, USA.
  • Parikh S; Department of Pediatrics, SUNY Upstate Medical University, Syracuse, New York, 13210, USA.
  • Hsich GE; Department of Psychiatry, SUNY Upstate Medical University, Syracuse, New York, 13210, USA.
  • Friedman NR; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, 02115, USA.
  • Ritter DM; Department of Pediatric Neurology, Cleveland Clinic Children's, Cleveland, Ohio, USA.
  • Hardan AY; Department of Pediatric Neurology, Cleveland Clinic Children's, Cleveland, Ohio, USA.
  • Martinez-Agosto JA; Clinical Transformation, Barrow Neurological Institute, Phoenix Children's Hospital - Thomas Campus, Phoenix, Arizona, 85016, USA.
  • Sahin M; Divisions of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, 45229, USA.
  • Eng C; Department of Child Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, California, 94305, USA.
Ann Clin Transl Neurol ; 11(5): 1301-1309, 2024 May.
Article en En | MEDLINE | ID: mdl-38501559
ABSTRACT

OBJECTIVE:

PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied health services have not been described.

METHODS:

Young patients with PHTS and sibling controls were recruited across five centers in the United States and followed every 6-12 months for a mean of 2.1 years. In addition to the history obtained from caregivers, neurodevelopmental evaluations and structured dysmorphology examinations were conducted, and brain MRI findings, received therapies, and epilepsy characteristics were reported.

RESULTS:

One hundred and seven patients with PHTS (median age 8.7 years; range 3-21 years) and 38 controls were enrolled. ASD and epilepsy were frequent among patients with PHTS (51% and 15%, respectively), with generalized epilepsy strongly associated with ASD. Patients with epilepsy often required two antiseizure medications. Neuroimaging revealed prominent perivascular spaces and decreased peritrigonal myelination in individuals with PHTS-ASD. Allied therapy use was frequent and involved physical, occupational, speech, and social skills therapies, with 89% of all patients with PHTS, regardless of ASD diagnosis, utilizing at least one service.

INTERPRETATION:

This prospective, longitudinal study highlights the wide neurological spectrum seen in young individuals with PHTS. ASD is common in PHTS, comorbid with epilepsy, and allied health services are used universally. Our findings inform care discussions with families about neurological outcomes in PHTS.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación de Línea Germinal / Epilepsia / Fosfohidrolasa PTEN / Trastorno del Espectro Autista Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación de Línea Germinal / Epilepsia / Fosfohidrolasa PTEN / Trastorno del Espectro Autista Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos