Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome (original) (raw)
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Neuromotor Deficits in Children With the 22q11 Deletion Syndrome
The 22q11 chromosomal deletion syndrome (22q11DS) is associated with a heterogeneous physical phenotype, neurocognitive deficits, and increased risk of later psychiatric illness. Sporadic clinical reports suggested motor differences, but quantitative studies of movement in children with 22q11DS are rare. If present in a majority of affected schoolage children, characterization of neuromotor deficits may prove to be critical for intervention, neurocognitive test interpretation, and understanding etiology. We administered the Movement Assessment Battery for Children to 72 children ages 4.3 to 16.1, including 49 children confirmed positive for the 22q11 deletion and 23 control siblings. We predicted a higher frequency of global and domain impairment in manual dexterity, eye-hand coordination, and balance among affected children. Ninety-four percent of affected children had marked neuromo-
22q11.2 deletion syndrome: Are motor deficits more than expected for IQ level?
The Journal of Pediatrics, 2010
Objective-To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group. Study design-This study was part of a prospective study of neuropsychological function in children 9-15 years of age with 22q11.2 and community controls and included children from these two populations with comparable FSIQs. Results-Verbal IQs on the WISC-R for 40 children with 22q11.2 (88.4) and 24 community controls (87.2) were not different (p=.563). However, the Performance IQs were (22q11.2; 81.1 vs community controls; 89.3;p<.001). On the Visual Motor Inventory (VMI), there was no difference between the standard scores of the two groups (22q11.2; 93.0 vs community controls; 98.1; p=.336) but on the motor coordination part of the VMI, the scores of the 22q11.2 deletion syndrome group were lower (77.2 vs 89.3; p=.002). On the general neurological exam (p=.906), the tone exam (p=. 705), and the ball skills part of the Motor Battery, (p=.378), there were no differences. However, on the axial stability part of the Motor Battery, the children with 22q11.2 exhibited less good balance (p=.026). Conclusions-School aged children with 22q11.2 have specific motor deficits in axial stability and graphomotor skills.
Epilepsia
The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. Methods: The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n = 44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview. Results: Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P = 0.004). Fifty-seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P < 0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P < 0.001). One deletion This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Dystonia in a patient with deletion of 18q
Movement Disorders, 1995
This is the first reported case of dystonia with a partial deletion of the long arm (9) of chromosome 18. Neurologic findings in the 18q-syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,deI( 18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q-syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.