Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best fitting model was a sex-influenced, single gene, Mendelian pattern. Several genetic models were evaluated based on estimates of penetrance, phenocopy rate, and allele frequency derived from our patient population and those of other investigators. No significant linkage was detected between the disease locus and markers spanning this chromosome 20 interval.
up to 8% of the general population and often impairs social, academic, and job perfor- mance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be re- sponsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (2Opll-p12). Five families in which the pat- tern of inheritance of ADHD appears to be autosomal dominant were studied. Segrega- tion analysis of the traits studied suggested that the best fitting model was a sex-influ- enced, single gene, Mendelian pattern. Sev- eral genetic models were evaluated based on estimates of penetrance, phenocopy rate, and allele frequency derived from our pa- tient population and those of other investi- gators. No significant linkage was detected between the disease locus and markers spanning this chromosome 20 interval.
The possible utility of Wechsler's Deterioration Index (WDI) in analyzing children's Wechsler Intelligence Scale for Children-Revised (WISC-R) results was explored in this study. Clinical records of children with learning disabilities (LD) and children with attention deficit-hyperactivity disorder (ADHD) were reviewed to determine if the WDI predicted the presence or severity of the disorders. The ages of the children ranged from 6 to 14. In two independent samples of children with LD (n = 35 and n = 26), the WDI did not predict LD status or severity. The LD samples were mostly male--85% and 57%, respectively. However, the WDI scores did significantly distinguish children with ADHD (n = 10) from nondisabled children (n = 10). The results were cross-validated on an independent sample of children with ADHD (n = 17) when compared to non-ADHD children (n = 22) who experienced significant behavioral difficulties. The ADHD samples were also mostly male--90% and 89%, respectively. The WDI classified only 59% of the children with ADHD and 86% of the non-ADHD children correctly. It is recommended that the WDI be considered a developmental index rather than a deterioration index in children. It is also recommended that significant WDI elevation (greater than .20) be considered to raise the question of ADHD, rather than simply yielding a diagnosis of ADHD.
Expanded outpatient surgery for pediatric patients makes it difficult to provide an unhurried and thorough preoperative visit. A useful component could be a videotape to be seen by parents at the time of their initial hospital visit. For this study, a videotape was made that included an actual induction of anesthesia procedure, information about pediatric anesthesia, and a discussion of the risks of injury or death during anesthesia. To decrease anxiety from discussion of risk, monitoring equipment was shown and explained. This survey investigated whether, after seeing the tape, the parents of children scheduled for outpatient surgery thought they were better informed and less anxious about the child's anesthetic. During a preoperative clinic visit, an interviewer introduced the tape and its purpose to 31 parents of 25 children, then asked a series of standard questions. When asked directly, most parents (74%) said the film did not change their concerns about the anesthetic, although 42% of the parents of the children with no surgical history reported decreased concern. In contrast, 84% to 97% of the parents considered seven specific aspects of the film to be helpful in reducing concern. Half were reminded of issues to be discussed with the child's anesthesiologist. Most parents (65%) appeared to accept discussion of the risk of perioperative death, although some had strongly negative reactions. The results suggest that a supportive preoperative tape can acquaint parents with the basis for anesthesiologists' concerns and facilitate the preoperative visit. Seeing an actual anesthetic may help to reassure parents about the anesthetic care their children will receive.(ABSTRACT TRUNCATED AT 250 WORDS)
The treatment of anorexia nervosa (AN) is often complicated by the subversion of therapy by the patient. We describe the undermining of treatment by ward personnel as a result of their lack of understanding of the psychodynamics of AN and their perception of these patients as not being “sick” in the traditional sense and therefore not entitled to the “sick role.” The incidents which occurred in our center are discussed as to their possible origins, the patient's response, and the remediation employed. The remedial approaches which may have the most promise are presented.