chaves_19_ASD/DD/ID_discovery_cases-case339

  NA NA

 N/A

 F

 Dysmorphic features

 Slender build, facial dysmorphism, and alopecia. Karyotype: 46, XX, Inv (12)(p13q24.1).

 

 10769917

 12784386

  2014470

 GRCh38

 Deletion

 No

  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000831

  Kaminsky EB , et al. 2011

 NA

 NA

 Developmental delay/intellectual disability/ASD

 Clinical profile NA

 Cognitive profile NA

 11771233

 13547775

  1776543

 GRCh38

 Deletion

 Yes

  mishra_17_DD_discovery_cases-case1

  Mishra N , et al. 2017

 3 yrs.

 M

 Global developmental delay

 Birth/neonatal history: born at term via spontaneous vaginal delivery; antental ultrasound during 33rd week of gestation detected a large head circumference and improper closure of the cerebral ventricles (not seen on postnatal head ultrasound); light meconium present at delivery, bit no resuscitation was required; transient respiratory distress; birth weight of 8 lbs. 7 ozs. (90th %ile); patent foramen ovale detected by echocardiogram at this time. Developmental milestones: global developmental delay noted since early infancy, predominantly affecting motor and language domains; no developmental regression; adequate head control around 6 months, able to sit with support by 9 months, able to sit unsupported by 12 months, could transition from supine to sitting at 18 months, started to pull-to-stand at 24 months; started ambulating independently at 3 years (frequent falls due to poor balance); bilateral pincer grasp at around 15 months; able to spoon-feed himself by 24 months; scribbling with a pen at 3 years (could not draw discrete lines or shapes); significanly delayed language development; social smile developed in infancy; began to laugh around 11 months; not toilet trained and unable to dress himself at 3 years. Langauge and communication evaluation: vocabulary of approximately 5 words at 2 years, which expanded to 10-20 single spontaneous words by 3 years; main method of communication was nonverbal with gestures; receptive lanaguge was comparatively better than expressive language but delayed. able to spontaneously produce few meaningful words at 3 years. Motor and musculoskeletal evaluation: central hypotonia since first week of life; mild truncal hypotonia; poor balance while walking; clinodactyly of fifth digits bilaterally; third and fourth right toe incomplete syndactyly, second toe on right foot is shorter than first and third toes. Behavioral/psychiatric evaluation: social interest in peers, able to initiate and interact in reciprocal play; engaged in some simple pretend play by 24 months; mild repetitive behaviors (turning on/off switches, closing door repeatedly by age 2, restricted play themes); some sensory aversions, including aversion to certain tactile and auditory stimuli; interactive with interest in external environment on neurological examination at 3 years. Epilepsy/seizures: no clinical seizures. EEG: spike and wave discharges over the right posterior parietal head region. Brain imaging: brain MRI not performed. Ophthalmological evaluation: normal. Auditory evaluation: normal. Dysmorphic features: broad forehead, mild frontal bossing, scaphocephaly, hypoplastic supraorbital ridge, prominent nasal bridge, bulbous nose, mild micrognathia, slightly wide mouth, downturned corners of the mouth, deep-set eyes, posteriorly rotated right ear compared to the left, high anterior hairline, single posterior hair whorl, sacro-coccygeal dimple. Growth parameters: height and weight near 50th %ile, head circumference just above 97th %ile. Family history: born to nonconsanguineous parents; significant for developmental delay and primary gastrointestinal malignancies in some family members; case's eldest brother was diagnosed with ASD and ADHD and presented with moderate-to-severe language delay, fine motor delay, motor planning difficulties, and academic challenges; younger brother had isolated speech delay; paternal grandfather had a history of speech and langage delay; paternal grandmother had benign colon tumor removed at age of 21 years; paternal nephew found to have appendiceal tumor at age of 16 years; paternal uncle diagnosed with gastrointestinal cancer in mid-50s.

 

 10995116

 14105396

  3110281

 GRCh38

 Deletion

 Yes

  morisada_16_ASD/ID_discovery_cases-case1

  Morisada N , et al. 2016

 6 yrs.

 M

 Intellectual disability and ASD

 Birth/neonatal history: gestational age 40 weeks 0 days; birth weight of 4112 g (+2.91 SD), length of 53 cm (+1.48 SD), and head circumference of 36 cm (+2.2 SD). Developmental milestones: referred to hospital at age of 7 months due to motor developmental delay and intellectual disability; unable to hold his hea dup at 7 months; unable to sit alone at age of 1 year. Behavioral/psychiatric evaluation: diagnosed with autism spectrum disorder (ASD); diagnostic tools not reported. Epilepsy/seizures: no epileptic convulsions. Brain imaging: no significant abnormalities on cranial MRI. Dysmorphic features: macrocephaly. Growth parameters: height of 90.9 cm (+1.8 SD), weight of 13.28 kg (+1.4 SD), and head circumference of 54.0 cm (+4.8 SD) at age of 2 years. Family history: first child of non-consanguineous Japanese parents: both parents and a younger sister were healthy. Additional genetic information: normal male karyotype detected by standard G-band karyotyping; inherited missense variant in NFIX (c.830G>A;p.Arg277His).

 Mild intellectual disability. Developmental quotient, as assessed by the Kyoto Scale of Psychological Development 2001, was 60 (age of 3 years 6 months), 65 (age of 5 years), and 67 (age of 6 years 1 month).

 12330022

 14283265

  1953244

 GRCh38

 Deletion

 No