bitar_19_ASD_discovery_cases-case91

  NA NA

 N/A

 M

 ASD and epilepsy

 Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: fear, anxiety, self-injurious behavior. Epilepsy/seizures: epilepsy. Additional medical history: deafness. Family history: born to consanguineous parents (first degree cousins); history of diabetes on both sides of the family, as well as hypertension, high cholesterol, and cardiac disease on the paternal side of the family. Note: CNV result of probable parental translocation.

 

 44776577

 50785824

  6009248

 GRCh38

 Duplication

 Yes

  frye_12_ASD_discovery_cases-case1

  Frye RE 2012

 4 yrs.

 F

 ASD

 Initially diagnosed with ASD at 3 years of age; at 4 years of age, met DSM-IV criteria for diagnosis of ASD, diagnosis of ASD confirmed by ADOS examination. Birth/neonatal history: born preterm at 34 weeks gestation following pregnancy complicated by oligohydramnios and diet-controlled gestational diabetes; unremarkable neonatal course. Developmental milestones: normal development until 5 months; global developmental delay (did not crawl until 21 months, did not walk until 30 months, did not say "Mama" until 3 years); Denver Developmental Scale (at 4 years) showed social milestones at 2 years of age, fine motor milestones at 15 months of age, language milestones at 1 year of age, and gross motor milestones at 3 years of age. Language and communication evaluation: non-verbal. Motor and musculoskeletal evaluation: hypotonia; muscle biopsy revealed myofiber irregularity, fibers with increased sarcoplasmic lipid, succinate dehydrogenase-hyperactive fibers, increased number of abnormal subsacrolemmal mitochondria, degenerating mitochondria, and increased lipid-like deposits; depressed electron transport chain function in muscle tissue in all complexes except complex II. Behavioral/psychiatric evaluation: unusually friendly, frequent repetitive movements. Epilepsy/seizures: suffered 10-minute generalized tonic-clonic seizure at 4 years. EEG: frequent moderate-to-high amplitude focal sharp waves, spikes, and spike-and-wave discharges from right centrotemporal region, which occasionally occurred synchronously with discharges from left centrotemporal region. Brain MRI: non-specific bilateral small focal areas of increased T2 & fluid attenuated inverse recovery signal in occipital lobes (most consistent with incomplete myelination); mild prominence of right occipital and temporal horns. Metabolic evaluation: elevated lactate, pyruvate, creatine kinase, serum alanine-to-lysine ratio, acyl-carnitines, and urine organic acids; elevated CSF lactate. Dysmorphic features: small forehead, low-set small ears, small eyes, midface hypoplasia, maculopapular rash on back, fine capillary hemangiomas on cheeks. Growth parameters: symmetric growth retardation; height, 91.5 cm (<1%ile); weight, 13 kg (<1%ile), head circumference, 46 cm (<1%ile). Family history: four siblings with no neurodevelopmental disorders; history of early dementia and bipolar disorder on paternal side, history of multiple miscarriages in mother and maternal grandmother.

 Global developmental delay

 40561491

 51186190

  10600000

 Unknown

 Duplication

 Yes

  streata_22_ASD/DD/ID_discovery_cases-case77

  NA NA

 NA

 M

 Developmental delay and intellectual disability

 Global developmental delay, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.

 Mild/moderate intellectual disability

 40335205

 50739836

  10404632

 GRCh38

 Duplication

 Yes