Symptoms and General Pathology

All Conditions

Behaviors and Mental Disorders

Neoplasms

Musculoskeletal Diseases

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

Rare Diseases

Syndrome

Autistic Disorder

Hamartoma

Megalencephaly

Hamartoma Syndrome, Multiple

Autism Spectrum Disorder

Child Development Disorders, Pervasive

Developmental Disabilities

Neurodevelopmental Disorders

Mental Disorders

Psychotic Disorders

Neoplasms, Multiple Primary

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

Congenital Abnormalities

Craniofacial Abnormalities

Musculoskeletal Abnormalities

Malformations of Cortical Development

Nervous System Malformations

PTEN Hamartoma Tumor Syndrome

PTEN participants with Autism Spectrum Disorder group

PTEN participants without Autism Spectrum Disorder group

Rajna Filip-Dhima, MS

Jeff Anderson

Julian Martinez, MD, PhD

Robin Libove

Antonio Hardan, MD

Emine Arcasoy

Mustafa Sahin, MD, PhD

Adrienne Victory

David Ritter, MD

Beth Crouser

Charis Eng, MD, PhD

The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD. In addition, this study will be creating and maintaining a biorepository and linked phenotypic database for PTEN ASD.

Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. ASD associated with germline heterozygous PTEN mutations (PTEN ASD) is a genetically defined sub-group that, may be one of the more prevalent genetic disorders contributing to ASD (0.5-2%). The purpose of this research study is to carefully track the phenotypic and molecular characteristics of PTEN ASD and identify biomarkers for intervention studies.

Individuals with PTEN ASD, with macrocephalic ASD without a PTEN mutation (macro-ASD), healthy controls, and individuals with PTEN mutations without ASD (PTEN no-ASD) will be asked to participate in this study if they are 18 months and older. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English.

The study involves 3 on site visits over the course of two years. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions, neuropsychological assessments, and a blood draw done for laboratory studies. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis.

Blood draw for future correlative studies in the PTEN Biorepository of the Developmental Synaptopathies Consortium.

170 subjects; 100 existing subjects, 70 newly enrolled participants; 50 controls

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

Verbal and non-verbal ability will be evaluated using Stanford Binet -5 or Mullen Scales of Early Learning (MSEL) at 12 months

Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4).

Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 12 months.

Verbal and non-verbal ability will be evaluated using Stanford Binet 5 or Mullen Scales of Early Learning (MSEL) at 24 months

Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months

Working memory will be evaluated using the Stanford Binet 5 at 12 months

Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months

Working memory will be evaluated using the Stanford Binet 5 at 24 months

Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 24 months

Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 24 months

Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4) at 24 months

Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 24 months.

Spots Global Cancer Trial Database for germline heterozygous pten mutations