al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0629

  Al-Qattan SM , et al. 2014

 N/A

 F

 Developmental delay

 Global developmental delay with dysmorphic features, short stature, congenital strabismus with limited eye movements, prominent distal phalangeal bones of both hands. Consanguineous parents.

 Global developmental delay

 19970370

 22216247

  2245878

 GRCh38

 Duplication

 No

  chilian_13_DD/ID_discovery_cases-case1

  Chilian B , et al. 2013

 5 yrs.

 M

 Developmental delay/intellectual disability

 Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.

 Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.

 20217843

 22290679

  2072837

 GRCh38

 Duplication

 No

  cucinotta_23_ASD_discovery_cases-case12

  NA NA

 NA

 NA

 ASD

 Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.

 

 20481702

 22834164

  2352463

 GRCh37

 Deletion

 No

  maini_18_ASD/DD/ID_discovery_cases-case_unknown34

  NA NA

 N/A

 N/A

 NDD/MCA/dysmorphic features

 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)

 

 20276450

 22308242

  2031793

 GRCh38

 Deletion

 No

  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530566

  NA NA

 

 M

 Developmental delay

 Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)

 

 20400820

 23439861

  3039042

 GRCh38

 Deletion

 No

  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530567

  NA NA

 

 F

 MCA

 Abnormal facial shape (HP:0001999), orofacial cleft (HP:0000202)

 

 20450820

 23139861

  2689042

 GRCh38

 Deletion

 No

  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3

  Picinelli C , et al. 2016

 N/A

 M

 Developmental delay

 Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.

 Developmental delay (TIQ score of 54)

 20276449

 22270805

  1994357

 GRCh38

 Deletion

 No

  reis_17_ASD/ID_discovery_cases-case2

  Reis VN , et al. 2017

 29 yrs.

 F

 Intellectual disability

 Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.

 Diagnosed with intellectual disability in 1992

 20359355

 22270805

  1911451

 GRCh38

 Deletion

 No