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Table 4 Medical problems in 37 patients with 22q11.2DupS compared to 101 patients with 22q11.2DS

From: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

System 22q11.2DupS with documentation of evaluation Percent abnormal of those with evaluation Comments 22q11.2DS with documentation of evaluation; Percent abnormal
Cardiac Clinical evaluation: n = 37 24 % (9/37) VSD, PVS, PDA, ASD/PFO, TOF, HLHS Clinical evaluation by echo: n = 99; 82 % abnormal
Echo: n = 25
Endocrine Endocrine evaluation: n = 31 Hypothyroidism 19 % (6/31) Hypocalcemia 10 % (3/31)   Endocrine evaluation: n = 98; 70 % abnormal (including 16 % with hypothyroidism and 38 % with hypocalcemia)
Hearing loss Audiogram: n = 37 16 % (6/37)
• Conductive n = 3
• Mixed n = 2
• Sensorineural n = 1
Mild loss in 4/5; Mild to moderate loss in 1/5 with Mixed HL Audiogram: n = 101; 34 % abnormal (including 26 % with Conductive HL, 3 % with sensorineural; 2 % with HL not specified)
Hematologic Complete blood count: n = 37 16 % (6/37)
• Thrombocytopenia n = 1
• Thrombocytopenia and anemia n = 1
• Neutropenia n = 2
• Anemia n = 2
Prolonged PTT in patient with Factor XII deficiency not included Complete blood count: n = 101; 23 % abnormal (including 12 % with thrombocytopenia)
Immunologic Immunology visit: n = 31 39 % (12/31)
• Abnormal immunoglobulin levels n = 7
• Inappropriate vaccine response n = 3
• Low T-cell count n = 1
• CVID n = 1
  Immunology visit: n = 98; 66 % abnormal
Neurologic/calavarium Brain MRI: n = 16 Structural anomaly 24 % (5/21) Chiari Type I; Prominent posterior CSF space, platybasia, T2 prolongation in hippocampus; Sagittal synostosis Neurological evaluation: n = 50; 40 % abnormal (including 15 % with seizure disorder)
EEG: n = 5 Hypotonia 27 % (10/37)
Seizure activity 19 % (7/37)
Ophthalmologic Ophthalmology evaluation: n = 37 22 % (8/37)
• Strabismus n = 5
• Megalocornea n = 1
• Aphakia and congenital cataract n = 1
• Ptosis n = 1
  Ophthalmology evaluation: n = 56; 48 % abnormal (including 23 % with strabismus)
Otolaryngology(non-palate related) Otolaryngology evaluation: n = 37 54 % (20/37) Ankyloglossia, dysphagia, laryngomalacia, Eustachian tube dysfunction. Surgical interventions: BMT (n = 9), T&A (n = 9) Otolaryngology evaluation: n = 93; 83 % abnormal (including 59 % requiring BMTs and 20 % requiring T&A)
Renal Renal ultrasound: n = 25 24 % (6/25) VUR; Pelviectasis (n = 2); Lithiasis; Nephromegaly; Megaureter Renal ultrasound: n = 95; 23 % abnormal
Skeletal C-Spine x-rays: n = 11 C-spine anomaly 45 % (5/11) Slightly large atlantodens interval; Hypoplastic PE of C1 and elongated PE of C2; Exaggerated kyphosis, lordosis; Incomplete arch C1; Lack of bony fusion of C1 and dysmorphic C2 C-Spine x-ray: n = 59; 71 % abnormal (27 % with C2-C3 fusion). Hemihypertrophy noted in 1/101.
Hemihypertophy noted in 3/37
  1. Participants: Medical problems listed by system that were observed in 37 previously unreported patients with 22q11.2DupS compared to 101 patients with 22q11.2DS. 22q11.2DS patients were matched on age and sex to the 22q11.2DupS patients. Note: not all diagnoses are listed and those listed are may not be mutually exclusive
  2. Abbreviations: ASD/PFO atrial septal defect/patent foramen ovale, BMT bilateral myringotomy tubes, CSF cerebrospinal fluid, CVID common variable immunodeficiency, Echo echocardiogram, EEG electroencephalogram, HL hearing loss, HLHS hypoplastic left heart syndrome, MRI magnetic resonance imaging, PDA patent ductus arteriosus, PE posterior elements, PTT partial thromboplastin time, PVS pulmonary valve stenosis, T&A tonsillectomy with adenoidectomy, TOF tetralogy of Fallot, VSD ventricular septal defect, VUR vesicoureteral reflux