battaglia_13_DD/ID/ASD_discovery_cases-case50

  Battaglia A , et al. 2013

 4 yrs. 6 mos.

 M

 Developmental delay/intellectual disability

 Autism: no. Epilepsy: no. Dysmorphic features: yes.

 Mild-moderate DD/ID

 2692847

 3872533

  1179687

 GRCh38

 Deletion

 Yes

  hiraide_21_ASD/DD/ID_discovery_cases-case2117

  Hiraide T et al. 2021

 4 yrs.

 M

 ASD and developmental delay/intellectual disability

 Birth/neonatal history: born at term; small for gestational age. Developmental milestones: first words at 22 months, walking independently at 14 months, sat independently at 8 months; speech delay, motor delay; developmental regression. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism spectrum disorder, stereotypies, sleep disorders. Growth parameters: short stature, microcephaly.

 Moderate developmental delay/intellectual disability (DQ/IQ NA)

 99116

 4536147

  4437032

 GRCh38

 Deletion

 Yes

  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000257

  Kaminsky EB , et al. 2011

 NA

 NA

 Developmental delay/intellectual disability/ASD

 Clinical profile NA

 Cognitive profile NA

 121255

 3968447

  3847193

 GRCh38

 Deletion

 Yes

  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001171

  Kaminsky EB , et al. 2011

 NA

 NA

 Developmental delay/intellectual disability/ASD

 Clinical profile NA

 Cognitive profile NA

 2492728

 4829842

  2337115

 GRCh38

 Deletion

 Yes

  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003895

  Kaminsky EB , et al. 2011

 NA

 NA

 Developmental delay/intellectual disability/ASD

 Clinical profile NA

 Cognitive profile NA

 1764264

 4231744

  2467481

 GRCh38

 Duplication

 Yes

  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003992

  Kaminsky EB , et al. 2011

 NA

 NA

 Developmental delay/intellectual disability/ASD

 Clinical profile NA

 Cognitive profile NA

 199896

 3284963

  3085068

 GRCh38

 Duplication

 Yes

  martucci_23_ASD_discovery_cases-case17

  NA NA

 

 M

 ASD

 Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: severe. Language and communication evaluation: verbal. EEG: negative. Family history: negative.

 DQ/IQ score <50.

 2166496

 3626681

  1460186

 GRCh38

 Deletion

 Yes

  massier_24_ASD/ADHD/DD/ID_discovery_cases-caseFam15_P24

  NA NA

 8 yrs.

 M

 Developmental delay and intellectual disability

 Developmental delay, low frustration tolerance

 Severe intellectual disability

 85083

 3498004

  3412922

 GRCh38

 Deletion

 No

  miyake_23_ASD_discovery_cases-case11954

  Miyake N et al. 2023

 NA

 M

 ASD

 Case clinically diagnosed with ASD based on DSM-V criteria.

 

 2448961

 3381562

  932602

 GRCh38

 Duplication

 Yes

  poultney_13_ASD_discovery_cases-case99HI0694B

  Poultney CS , et al. 2013

 N/A

 F

 ASD

 ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)

 

 2822792

 3280485

  457694

 GRCh38

 Duplication

 No

  sansovic_17_DD/ID/ASD_discovery_cases-case6

  Sansovi I , et al. 2017

 15 yrs.

 F

 Developmental delay/intellectual disability

 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism

 

 121255

 4829842

  4708588

 GRCh38

 Deletion

 No

  thevenon_12_CAS/DVD_discovery_cases-patient1

  Thevenon J , et al. 2012

 3 yrs.

 M

 CAS/DVD and ADHD features

 Birth/neonatal history: asymmetrical cerebral ventricular dilation noticed during 3rd trimester of pregnancy; no additional abnormalities noted; birth at 39 weeks of gestation (weight 3270 g, length 51 cm, OFC 35 cm); described as clam baby with no interest in toys. Developmental milestones: walking acquired at 21 months; speech delayed until ~3 years. Neuropsychological evaluation identified dysharmonic neuropsychological profile (WPPSI-III, comprehension SN 4/19, reading ability SN 8/19, cubes SN 1/19, object assembly and block design SN 11/19). Langauge and communication evaluation (orthophonic findings): CAS/DVD (childhood apraxia of speech/developmental verbal dyspraxia), communicated mostly by shouting; reading abilities different from word comprehension (which was very low) and aggravated by visual perception deficiency evidenced by difficulties in picture naming; performances comparable to those of children his age; speech evaluation at 46 months diagnosed speech impairment with no communication toubrles (low comprehension skills, spontaneous speech associated with unarticulated words were understood & translated by family). Behavioral/psychiatric evaluation: solitariness and low social interactions; attention deficit noticed (patient too young to confirm diagnosis of ADHD). Schooling: normal with personal assistance. Sleep disturbances: yes. Brain imaging: normal brain MRI. Auditory evaluation: normal. Dysmorphic features: square coarse face, mild frontal bossing, enophtalmia, low-set ears, anteverted and thick ear lobes, marked philtrum, large nares, thin upper lip, irregular and narrowly-spaced teeth, hypertrichosis on lower region of back. Growth parameters: height and weight on mean curve; macrocephaly (+ 2.5 SD). Family history: second child born to healthy parents; old brother with normal development and schooling; mother with CAS/DVD (patient 2 in this report).

 No intellectual disability; IQ could not be calculated due to disassociation between performances and verbal abilities.

 199696

 3285115

  3085420

 GRCh38

 Deletion

 Yes

  thevenon_12_CAS/DVD_discovery_cases-patient2

  Thevenon J , et al. 2012

 35 yrs.

 F

 CAS/DVD

 Developmental milestones: past history of severe speech delay with speech production troubles; first words at 4 years; intensive speech therapy. Langauge and communication evaluation (orthophonic findings): CAS/DVD (childhood apraxia of speech/); specialized speech evaluation revealed better receptive than expressive abilites, inconsistent errors on consonants and vowels in repeated production of syllables or words with an increase in errors with longer words, impaired ability to repeat nonsense words, and oral apraxia in fine coordinated movement sequence of the mouth, tongue, lips, and eyes. Behavioral/psychiatric evaluation: normal; good social integration. Schooling: difficulties with schooling, but did not attend a special needs school; no high school diploma, but followed vocational course. Family history: son with CAS/DVD (patient 1 in this report).

 No intellectual disability. IQ of 89 (WAIS-III, IVQ of 86 with VCI 92, WMI of 94, IPQ of 96 with OPI of 95 and PSI of 102).

 199696

 3285115

  3085420

 GRCh38

 Deletion

 Yes

  thevenon_12_CAS/DVD_discovery_cases-patient9

  Thevenon J , et al. 2012

 11 yrs.

 M

 CAS/DVD and intellectual disability

 Birth/neonatal history: pregnancy marked by IUGR (intra-uterine growth retardation). Developmental milestones: initial presentation at 4 years with speech delay and normal motor skills; sitting acquired at 7 months, walking at 16 months; first words between 36-40 months; first sentences at 8 years. Langauge and communication evaluation (orthophonic findings): CAS/DVD (childhood apraxia of speech/developmental verbal dyspraxia); speech production troubles contrasting with better lexical acquisition; oro-facial apraxia associated with poor intelligibility of speech; frequent sound omissions and vowel errors; speech only understood by parents. Motor and musculoskeletal evaluation: moderate joint laxity; poor fine motor skills. Behavioral/psychiatric evaluation: abnormal behavior. Schooling: special needs. Other medical concerns and comorbidities: chronic otitis diagnosed, grommets implanted. Dysmorphic features: hypotelorism, microcephaly with a prominent metopic suture, brittle first toe nails. Growth parameters: height and weight +1 SD, persistent microcephaly (OFC -2.2 SD). Family history: mother had personal history of speech delay with no consequences on education or professional career.

 Intellectual disability

 183966

 4810852

  4626887

 GRCh38

 Deletion

 Yes