-Related Intellectual Disability

CLINICAL CHARACTERISTICS

-related intellectual disability (-ID) is characterized by developmental delay / intellectual disability of variable degree, neonatal hypotonia, microcephaly, distinctive but variable facial characteristics, behavior problems, and asymptomatic persistence of fetal hemoglobin. Growth delay, seizures, and autism spectrum disorder have also been reported in some affected individuals.

DIAGNOSIS/TESTING: The diagnosis of -ID is established in a proband with suggestive clinical and laboratory findings and a heterozygous pathogenic variant in identified by molecular genetic testing.

MANAGEMENT

Treatment is primarily supportive and dictated by symptoms. Standard anti-seizure medication for seizure disorder; standard treatment for abnormal vision and/or strabismus, sleep disturbance, scoliosis, joint laxity, gastroesophageal reflux disease (GERD), constipation, and developmental issues. : Assessment of growth parameters, feeding difficulties, GERD, constipation, scoliosis, developmental progress, and behavior at each visit. Monitor seizures as clinically indicated. Assessment of vision and eye alignment as needed.

GENETIC COUNSELING

-ID is inherited in an autosomal dominant manner; however, most affected individuals have the disorder as the result of a pathogenic variant. Once the pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.