chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4935

  Chong WW , et al. 2014

 N/A

 F

 DD and autistic features

 Severe developmental delay,autistic features, hypotonia, dysmorphic features

 Severe developmental delay

 154141542

 155388230

  1246689

 GRCh38

 Deletion

 Yes

  cravero_17_ASD/ID_discovery_cases-case1

  Cravero C , et al. 2017

 7 yrs. 7 mos.

 M

 Autism and intellectual disability

 Case initially diagnosed with autism at age of 3 years (based on communication and social interaction impairments and restricted, repetitive patterns of behavior and interests); diagnosis confirmed following psychiatric evaluation at age of 7 years 7 months (CARS score of 38, indicating severe autism). Birth/neonatal history: uneventful pregnancy; born at term at 38 weeks of gestation by emergency C-section; birth weight 2680 g, Apgar scores of 2-6; ventilation during first five minutes of life. Developmental milestones: began to walk at 23 months of age; delayed speech development (first words at age of 3 years, vocabulary later limited to three words); developmental regression noted after loss of sight at age of 4 years (increasingly important attachment to adults, grasping behavior, loss of walking, increased self-injurious behaviors, diet almost exclusively made up of dairy products). Motor and musculoskeletal evaluation: inability to walk (case moved on his back by jerking on the ground or requested to be carried); thin legs; genu valgus; genu recurvatum; hyperlaxity; clinodactyly of 4th and 5th fingers of the right hand and the left and right fifth toe. Behavioral/psychiatric evaluation: behavioral problems reported before the age of 2 years; self-injurious behaviors (intense and repeated mutilations of cheekbones and eyes culminating in bilateral blindness at age of 4 years by intumescent white cataract after numerous surgical complication; knee blows on face, punches against cheekbones, and head banging against walls noted following admission into dedicated neurodevelopmental child psychiatric unit at age of 7 years 7 months); mood fluctation, alternating between emotional outbursts with bursts of self-stimulatory behaviors (stereotypies) and significant irritability, intolerance to frustration, opposition behaviors, tantrums, and sleeping troubles. Epilepsy/seizures: epilepsy was not diagnosed by neuropediatric team. EEG: EEG after sleep deprivation identified a somewhat slow wake-up track for his age, with sleep figures and arrangements preserved; sleep plot showed predominant intermittent slow activity on the anterior and one or two spikes on temporal. Brain imaging: brain MRI detected multiple structural brain abnormalities (moderate enlargement of temporal horns and frontal horns of lateral ventricles, also associated with moderate expansion of hemispheric grooves, with thickening of cranial vault; moderate diffuse hyperintensity of supratentorial white matter and a change of intracranial visual ways associated with atrophy of the eyeballs). Additional medical history: xerostomia; feeding difficulties (regurgitation, vomiting, refusal of solid food, forced feeding, gastroesophageal reflux, constipation; altered intestinal transit with episodes of diarrhea, encopresis, and coprophagia); ear infections and inflammation of sinus mucosa; chronic rhinosinusitis; numerous cavity lesions. Dysmorphic features: broad-based flat nose, poor dental status, lanugo. Growth parameters: weight 25th %ile, height -0.5 SD, BMI of 14.2 kg/m(2), head circumference within normal range. Family history: last child in a family of six, with five healthy sisters; mother was 41 years old and father was 44 years old at time of birth; parents were not related, and family history was unremarkable.

 Severe intellectual disability (Vineland-II developmental age equivalent to 12 months in areas of communication and social skills and 15 months in autonomy at age of 7 years 7 months)

 154104996

 155539091

  1434096

 GRCh38

 Deletion

 Yes

  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002379

  Kaminsky EB , et al. 2011

 NA

 NA

 Developmental delay/intellectual disability/ASD

 Clinical profile NA

 Cognitive profile NA

 154575689

 155292901

  717213

 GRCh38

 Deletion

 Yes