harvard_05_ASD_discovery_cases-case1

  Harvard C , et al. 2005

 13 yrs. 7 mos.

 M

 ASD

 Diagnosis of ASD based on DSM-IV criteria, CARS, and ADI-R (made at 7 yrs. 3 mos.); reassessment at 13 yrs. 7 mos. using ADOS module 3 revealed scores above cut-off for ASD. Birth/neonatal history: fourth of four pregnancies; born at term by induced vaginal delivery after uncomplicated pregnancy. Developmental milestones: normal early gross motor milestones (sitting at 6 months, cruising at 9 months); unsteady gait, poor balance and coordination apparent by 17 months; oral motor apraxia. Continued significant developmental delay in all areas noted at 7 years 3 months. Language and communication evaluation: moderate-to-severe language delay; receptive language at 2.5-3 yr level (testing at 4 yrs. 2 mos. of age); expressive language at 18-21 month level (testing at 4 yrs. 2 mos. of age). Motor skills and musculoskeletal evaluation: mild hypotonia and walking with a wide-based gait at 2 years 8 months; persistent hypotonia at 4 years 2 months. Behavioral/psychiatric characteristics: ADHD (proband prescribed Ritalin at 6 yrs., improved attention and ability to focus observed at 7 yrs. 3 mos.); extreme aggression; problems with reciprocal social interactions (abnormal eye contact with non-family members, lack of insight, awkwardness in social settings, self-stimulatory and atypical behaviors); prescribed Respiradol since 9 years of age for behavioral management and Celexa since age 10-11 years. Epilepsy/seizures: one generalized seizure at 9 years of age with prolonged postictal episode; no subsequent seizures. EEG (at 9 yrs): abnormal with background dysrhythmic and asymmetric, compatible with an area of irritability in right occipital area. Brain MRI: normal. Dysmorphic features: corase facies, mild frontal bossing, prominence of supraorbital ridges, hypertelorism, large ears with thickened scaphohelices bilaterally, broad and high nasal root, high-arched palate, clefted chin, single occipital hair whorl, bilateral tight heel cords, mild equinovarus deformity. Growth parameters: height, 98th %ile; weight, 95th %ile; OFC, >98th %ile. Family history: healthy parents; 15-yr-old sister with ASD (lacks 18q12 deletion); two healthy older siblings; maternal aunt with schizophrenia; maternal uncle with Down syndrome. Other genetic characteristics: complex karyotype with two chromosomal rearrangments [t(5;7)(p15.1; p12.2) and inv(3)(p24q24)].

 Cognitive testing at 4 yrs. 2 months using Stanford-Binet: overall socres in borderline range (2.5 year level), with better performance on visually based tasks. Vineland Adaptive Behavior Scale (at 4 yrs. 2 mos.): overall composite score equivalent to 1 yrs 9 mos. (mild intellectual disability range).

 NA (approximate start, 32375885)

 NA (approximate end, 32552502)

  NA

 NCBI35

 Deletion

 Yes