Cognitive evaluation in children and adolescents with Möbius sequence.

BACKGROUND: Möbius sequence is a rare condition usually defined as uni- or bilateral congenital facial weakness with impairment of ocular abduction. Mental retardation is estimated to occur in 10-15% of cases, but at present there have been no studies focusing on the intellectual capacities of children and adolescents with Möbius sequence. METHODS: Twenty-three children and adolescents aged 6-16 years could be recruited following a request of the German Möbius foundation. The primary caregivers of all subjects filled out a special questionnaire to compile personal, somatic and psychosocial history of the probands. All subjects had a physical examination. To assess intellectual capacities, the German version of the Wechsler Intelligence Test-III (WISC-III) was administered. In case of a severe mental retardation, the Vineland Adaptive Behavior Rating Form was used as an alternative. RESULTS: Twenty-two subjects [12 males, 10 females; mean age: 11.3 (6-16) years] could be included; 21 could be examined with the WISC-III. Compared with the normative sample, Full Scale IQ (mean: 92.05; standard deviation: 14.84) was significantly lower (P = 0.023) which was the consequence of a very low Performance IQ (mean: 80.48; standard deviation: 15.84). Compared with the normative sample, the results of all performance subtests were significantly lower (P = 0.033-0.000), whereas verbal subtest scores did not differ or were even higher ['Similarities' (P = 0.026) and 'Vocabulary' (P = 0.019)]. Verbal IQ (mean: 106.24; standard deviation: 15.31) was not significantly different from the normative sample. Two boys met ICD-10 criteria for mental retardation. Full Scale IQ was not predictive for academic success. CONCLUSIONS: The WISC-III is not an adequate predictor for academic success in Möbius patients; intelligence tests which are less dependant on time constraints should be preferred for subjects with Möbius sequence.

22q11.2 deletion syndrome: behaviour problems of children and adolescents and parental stress.

BACKGROUND: 22q11.2 deletion syndrome can be associated with a variety of somatic symptoms, developmental delays and psychiatric disorders. At present, there is little information on behaviour problems, parental stress and possible relations between these factors. Therefore, this study investigates behaviour problems of children and adolescents with 22q11.2DS, and their primary caregivers' stress. METHODS: Parents of 4-17 year old subjects known to the German 22q11.2 deletion syndrome foundation were anonymously asked to fill out several questionnaires, e.g. the Child Behavior Checklist 4-18 (CBCL/4-18). RESULTS: The primary caregivers of 77/126 children [43 males, 34 females, mean age: 8;0 (4;0-16;11) years] sent back filled-out questionnaires. Forty-six of 76 subjects were rated as clinical on at least one of the CBCL-scales. Males had significantly higher scores on the total problems scale and the internalizing problems scale than females. The patients' age correlated with several CBCL-scales. Eleven of 49 subjects were suspicious of an autism spectrum disorder. Compared with the general population, but not with other parents of mentally and/or physically handicapped children, the primary caregivers experienced higher levels of stress, but showed normal life satisfaction. CONCLUSIONS: In spite of high rates of clinical behaviour problems among children and adolescents with 22q11.2DS and despite increased parental stress, most primary caregivers seem to have effective coping strategies, e.g. partnership support, to sustain normal levels of life satisfaction.

Moebius sequence: behaviour problems of preschool children and parental stress.

This study investigates behaviour problems of preschool children with Moebius sequence, and their primary caregivers' stress. To this end, parents of all preschool children with Moebius sequence known to the German Moebius foundation were anonymously asked to fill out questionnaires, e.g. the Child Behavior Checklist [CBCL] 1.5-5. The primary caregivers of 13/22 children (seven males, six females; mean age: 3;10 [2;1-5;11] years) sent back filled-out questionnaires. Two children were rated as clinical on the CBCL-1.5-5. Boys had significantly higher scores on the scales aggressive behavior and total problems than girls. Compared to the general population, but not to other parents of mentally and / or physically handicapped children, the primary caregivers experienced higher levels of stress. In conclusion, preschool children with Moebius sequence do not show essentially increased rates of clinical behaviour problems. Nevertheless, their primary caregivers experience increased stress and need early and adequate support.

22q11.2 deletion syndrome: behaviour problems of infants and parental stress.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2 DS) can be associated with a variety of somatic symptoms, developmental delays and psychiatric disorders. At present, there is little information on early behaviour problems, and nothing is known about parental stress and possible relations between these factors. Therefore, the aim of this study was to investigate behaviour problems of infants with 22q11.2 DS, and their primary caregivers' stress. METHODS: Parents of infants with 22q11.2 DS known to the German 22q11.2 deletion syndrome foundation were anonymously asked to fill out several questionnaires, e.g. the Child Behavior Checklist (CBCL) 1.5-5. RESULTS: The primary caregivers of 22/30 children [12 boys and 10 girls aged 1 year 8 months to 3 years 11 months (mean age: 2 years 9 months)] sent back filled-out questionnaires. Seventeen out of 21 children showed motor, and 15/21 language delay. Five out of 21 children were rated as clinical on at least one CBCL 1.5-5 scale. The patients' age was correlated with anxiety problems, and girls had significantly more sleep problems than boys. Compared with the general population, the primary caregivers did not experience higher levels of strain, and compared with parents of mentally and/or physically handicapped children, their parental stress was significantly lower. Parental stress and strain were correlated to a variety of child behaviour problems, e.g. externalizing and anxious/depressed behaviour. CONCLUSIONS: Longitudinal studies are required to show whether behaviour problems and parental stress worsen when 22q11.2 DS patients grow older.

Neuropsychiatric findings of Möbius sequence -- a review.

Möbius sequence is a rare condition of heterogeneous, and in most cases, unclear; origin, usually defined as a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Disturbances in psychomotor and speech development are very common, and mental retardation is estimated to occur in 10-15% of cases. The incidence of autistic spectrum disorders might be increased in patients with Möbius sequence. After a brief overview on aetiology and physical appearance, current knowledge of cognitive capacities and academic achievement; psychomotor development; development of speech, language and communication; behaviour problems; psychiatric comorbidity and possible therapeutic interventions are reviewed.

[Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders]. / Das 22q11.2-Deletionssyndrom und seine Relevanz für die Kinder- und Jugendpsychiatrie. Ein Uberblick über Atiologie, körperliche Symptomatik, Entwicklungsaspekte und psychiatrische Störungen.

22q11.2 deletion syndrome is the most common interstitial deletion syndrome in humans. Patients with this syndrome can show a variety of somatic symptoms, especially characteristic facial abnormalities, heart defects, thymic hypo- or aplasia and velopharyngeal dysfunction with or without cleft palate. Disturbancies in motor, language, cognitive and social development are typical, as well as psychiatric disorders. Psychiatric disorders in children and adolescents are mostly attention-deficit/hyperactivity disorder, affective disorders, and autism spectrum problems. Schizophrenia in adults seems to be caused by 22q11.2 deletion in about 2% of all patients. We review current knowledge about etiology, physical features, developmental aspects and psychiatric comorbidity in 22q11.2 deletion syndrome as well as possible therapeutic interventions. Clinical criteria for genetic examinations on 22q11.2 deletion in children and adolescents with psychiatric disorders are defined. Until now 22q11.2 deletion is underdiagnosed in this population--despite of its clinical relevance.