ABSTRACT
The 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with palatal abnormalities, cardiac defects, a characteristic facial appearance, learning difficulties, and delays in speech and language development. Various behavioral disorders and psychiatric illnesses have also been reported. There is much debate as to whether the behavioral problems are caused by factors such as medical discomfort, facial abnormalities or a lower intelligence, or whether they are independently related to the genetic abnormality ("behavioral phenotype"). We examined the relationship between intelligence level and behavioral problems. A group of 69 children with 22q11DS was compared with 69 children with craniofacial anomalies (CFA) using the child behavior checklist (CBCL). The matches between individual children were based on their total IQ scores. Use of the CBCL norm scores covered the corrections for age and sex. The group of 22q11DS children showed significantly more behavioral problems than the CFA group: this was especially apparent on the CBCL subscales "withdrawn," "anxious/depressed," "delinquent behavior," "aggressive behavior," "somatic complaints," and "social problems." We found no correlation between IQ score and behavioral problems in the 22q11DS group, which was remarkable because, comparable with the general population, intellectual disabilities were a predictor of behavioral problems in the CFA group. 22q11DS children with relatively higher IQs showed more problems of an internalizing than an externalizing nature, whereas the 22q11DS children with lower IQs showed various behavioral problems. The absence of a statistically significant correlation between intelligence and behavior problems in the group of 22q11DS children is tentative evidence for a 22q11DS behavioral phenotype.
Subject(s)
Abnormalities, Multiple/genetics , Child Behavior Disorders/psychology , Chromosome Deletion , Chromosomes, Human, Pair 22 , Intelligence , Abnormalities, Multiple/pathology , Abnormalities, Multiple/psychology , Case-Control Studies , Child , Craniofacial Abnormalities/psychology , Female , Humans , Male , Psychometrics/methods , Reproducibility of Results , SyndromeABSTRACT
OBJECTIVE: This study examined (1) the effects of type of malformation, sex of ratee, and sex of rater on facial attractiveness and facial impairment ratings, and (2) the reliability of judgments on facial attractiveness and facial impairment and the association between these two constructs. SETTING: A university hospital for children. PARTICIPANTS: Raters were eight volunteers from the student population in a university, four men and four women. MAIN OUTCOME MEASURES: Raters judged frontal and lateral view slides of children with various types of craniofacial malformations both on a 5-point facial attractiveness scale and on a 5-point facial impairment scale. RESULTS: Main effects were found for type of malformation, sex of ratee, and sex of rater. No interaction effects were found among type of malformation, sex of ratee, and sex of rater. Interrater reliability was moderate to high, both for attractiveness ratings and for impairment ratings. The correlation between facial attractiveness and facial impairment was also moderate to high. CONCLUSIONS; Both condition parameters (type of malformation) as well as social parameters (sex of rater and sex of ratee) seem to influence judgments on attractiveness and impairment. Facial attractiveness and facial impairment can be rated reliably in children with (cerebro)craniofacial dysplasias. Raters consider these concepts to be very similar but not identical.
Subject(s)
Craniofacial Abnormalities/psychology , Esthetics , Face/anatomy & histology , Social Desirability , Adolescent , Adult , Analysis of Variance , Brain/abnormalities , Child , Child, Preschool , Female , Humans , Male , Observer Variation , Sex Factors , Social PerceptionABSTRACT
A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at straight theta=0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM.
Subject(s)
Cleft Lip/complications , Cleft Palate/complications , Intellectual Disability/genetics , X Chromosome/genetics , Chromosome Mapping , DNA/genetics , Family Health , Female , Genetic Linkage , Humans , Intellectual Disability/complications , Lod Score , Male , Microsatellite Repeats , PedigreeABSTRACT
Data are collected with the Child Behavior Check List (CBCL) as well as with the Teacher Report Form (TRF) of 40 VCFS children between 4 and 18 years of age. Half of the group shows very high problem scores in the "clinical" range. The average T-score of the VCFS children as a group are over 60 (one standard deviation above the mean) for the "total problem score" and the "internalising score". The highest scores with the subscales are found with "withdrawn" and "social problems". But also "thought problems" and "attention problems" score over 60. The VCFS children show more behavior problems and personality problems than the matched control children with a craniofacial anomaly. The differences are highly statistically significant.
Subject(s)
Child Behavior Disorders/genetics , DiGeorge Syndrome/genetics , Heart Defects, Congenital/genetics , Personality Disorders/genetics , Velopharyngeal Insufficiency/genetics , Adolescent , Child , Child Behavior Disorders/diagnosis , Child, Preschool , DiGeorge Syndrome/diagnosis , Female , Heart Defects, Congenital/diagnosis , Humans , Internal-External Control , Male , Personality Assessment , Personality Disorders/diagnosis , Phenotype , Velopharyngeal Insufficiency/diagnosisABSTRACT
In this article, a boy is presented with the Johanson-Blizzard syndrome and high intelligence. In the literature, a wide range of intellectual abilities of children with the Johanson-Blizzard syndrome is reported. To obtain optimal conditions for the development of a child with the Johanson-Blizzard syndrome, early diagnosis of potential problems that may prevent this normal growth and development is recommended. The acquisition of more knowledge concerning the hypothetic reasons for intellectual impairment is of vital importance for families involved, in the light of genetic counseling.
