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Biomedical subjects

S Sulzbacher

Publications and source records attributed to S Sulzbacher.

15 recordsLinked to original sources
PubMed2001

Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism.

OBJECTIVE: To investigate catecholamine phenotypes and the effects of a tyrosine hydroxylase inhibitor in individuals with the 22q11.2 deletion syndrome and low-activity catechol-O-methyltransferase (COMT). BACKGROUND: Many persons with the 22q11.2 deletion syndrome suffer severe disability from a characteristic ultrarapid-cycling bipolar disorder and associated "affective storms." One etiologic hypothesis for this condition is that deletion of the COMT gene from one chromosome 22 results in increased catecholamine neurotransmission, particularly if the undeleted chromosome 22 encodes a variant of COMT with low activity. METHODS: In a preliminary study, plasma, urine, and CSF catecholamines and catecholamine metabolites were measured in four teenage patients with a neuropsychiatric condition associated with 22q11.2 deletion and the low-activity COMT polymorphism on the nondeleted chromosome. In these four patients, and an additional institutionalized adult with the condition, an uncontrolled, open-label trial of metyrosine was administered in an attempt to lower catecholamine production and to alleviate symptoms. RESULTS: Mild elevations of baseline CSF homovanillic acid (HVA) were found in three of four patients and a moderate reduction in CSF HVA after metyrosine treatment in the patient with the highest pretreatment concentration. The course of the five patients during the clinical trial is described. CONCLUSIONS: In patients with the 22q11.2 deletion syndrome and low-activity COMT, controlled studies of pharmacologic agents that decrease catecholamine production, block presynaptic catecholamine storage, or enhance S-adenosylmethionine, the cosubstrate of COMT, are warranted.

Abnormalities, Multiple↗
PubMed1999

Late cognitive effects of early treatment with phenobarbital.

We previously reported that IQ was significantly lowered in a group of toddler-aged children randomly assigned to receive phenobarbital or placebo for febrile seizures and there was no difference in the febrile seizure recurrence rate. We retested these children 3-5 years later, after they had entered school, to determine whether those effects persisted over the longer term and whether later school performance might be affected. On follow-up testing of 139 (of the original n = 217) Western Washington children who had experienced febrile seizures, we found that the phenobarbital group scored significantly lower than the placebo group on the Wide Range Achievement Test (WRAT-R) reading achievement standard score (87.6 vs 95.6; p = 0.007). There was a nonsignificant mean difference of 3.71 IQ points on the Stanford-Binet, with the phenobarbital-treated group scoring lower (102.2 vs 105.7; p = 0.09). There were five children in our sample with afebrile seizures during the 5-year period after the end of the medication trial. Two had been assigned to phenobarbital, and three had been in the placebo group. We conclude there may be a long-term adverse cognitive effect of phenobarbital on the developmental skills (language/verbal) being acquired during the period of treatment and no beneficial effect on the rate of febrile seizure recurrences or later nonfebrile seizures.

Child↗
PubMed1996

Bone marrow transplantation in Hunter syndrome.

Hunter syndrome (mucopolysaccharidosis II) is a rare X-linked disorder of mucopolysaccharide metabolism that typically progresses to severe mental retardation and death by 18 years of age. A child with Hunter syndrome received an allogeneic bone marrow transplantation from an unaffected human leukocyte antigen-identical sibling at the age of 29 months without complications. Despite full and sustained engraftment now at 70 months after transplantation, the patient's neurocognitive abilities have continued to deteriorate. In this case, replacement of defective marrow-derived macrophages by bone marrow transplantation was not effective in preventing the neurologic progression of the disease in a child with the severe phenotype of Hunter syndrome.

Bone Marrow Transplantation↗
PubMed1994

Psychosocial adjustment in long-term survivors of childhood medulloblastoma and ependymoma treated with craniospinal irradiation.

Improved prognosis for pediatric brain tumors has stimulated research into the quality of life of survivors. To assess cognitive function and psychosocial and family adjustment among this population, 18 long-term survivors of childhood medulloblastoma or posterior fossa ependymoma treated with surgical resection and craniospinal irradiation were interviewed and administered achievement tests and psychosocial questionnaires. A majority of parents reported significant difficulty caring for their child with a brain tumor, but no significant adverse effects upon the family. Academic achievement was significantly impaired in 12/18 subjects. Psychosocial adjustment was normal in 10/18 subjects. Although specific treatment variables (radiation dosage, chemotherapy, etc.) were not significantly related to these two outcome measures, impaired academic achievement was correlated with young age at diagnosis (p < 0.05) and impaired psychosocial adjustment was correlated with greater time since diagnosis (p < 0.05). Overall quality of life reported by these individuals appears to be acceptable but neuropsychological and psychosocial examination is clearly indicated as part of the follow-up program.

Achievement↗
PubMed1994

First febrile seizures. Characteristics of the child, the seizure, and the illness.

Through interviews with parents, data were gathered about 910 first febrile seizures in children aged 8 to 34 months. A male preponderance of 57% was found (P < .001). In 29% of cases, there was a family history of febrile seizures. Eighteen percent of seizures were focal, and 7% lasted 15 minutes or more. Focal seizures were much more likely to be of long duration (P < .001). Otitis media was diagnosed in 32% of cases, and tonsillitis or upper respiratory infection in 12%. When compared to febrile seizures after the first birthday, febrile seizures in children aged 8 to 11 months were more than twice as likely to be longer than 15 minutes (P = .015). They were also much more likely to be followed by further seizures in the same illness (P < .001). Thus, febrile seizures in children younger than 1 year are more likely to have the characteristics known to increase the risk of later nonfebrile seizures.

Age Factors↗
PubMed1990

Assessment of injury risk in young children: a preliminary study of the injury behavior checklist.

There is a need for practical and cost-effective measures of the behavioral characteristics that predict subsequent injury in children. Previous research has focused on the predictive power of child problem behavior (e.g., hyperactivity, aggression, noncompliance) and has found reliable, but relatively weak associations with injury frequency. In an effort to improve upon this level of prediction using child behavioral measures, a care-giver report checklist of specific "risky" behaviors was developed for toddlers and preschoolers, called the Injury Behavior Checklist (IBC). A preliminary test of the reliability and validity of this instrument was undertaken in a sample of middle-class families (N = 253). Results indicated that the IBC has acceptable reliability (internal consistency = .87; 1-month test-retest correlation = .81) and is able to significantly discriminate children with two or more injuries from those with one or none (p less than .001). Multiple regression analyses indicated that the IBC was a better predictor of injury than parent-reported levels of child problem behavior using the Conners Parent Rating Scale.

Accident Proneness↗
PubMed1988

Sugar "allergy" and children's behavior.

Sixteen children whose behavior was said to become aggressive, overly active, loud, and noncompliant when ingesting sugar were tested. Sugar-free home diet was maintained and an "open" challenge to a large dose (3 g/kg) of candy bar sucrose was given. Subsequent behavior was noted by actometer, quantitative playroom observation using several standard behavioral tests, and ability to do maze drawings. No significant changes were found on the open challenge test. A slight change from baseline was noted in seven cases on three or four behavioral parameters. Five of these children agreed to a double-blind challenge test utilizing lemon-flavored slushes of sucrose, honey, tapioca starch, or aspartame, administered after a standard lunch free of sucrose. One child reacted to both sucrose and honey and another child reacted only to sucrose. These two children were challenged a second time. The child who reacted to honey again did so according to actometer readings, but this time not by Stony Brook test. To sugar, he reacted only at the 70-minute Stony Brook. The other child reacted to placebo instead of sucrose when rechallenged. The results indicate that high doses of sugar are not related to abnormal behavior. "Open" challenge was sufficient to rule out such a relationship in most instances. A repeated double-blind challenge confirmed the absence of a sugar effect in cases showing initial possibility of response.

Carbohydrates↗
PubMed1981

Long term therapeutic effects of a three month intensive growth group.

personality tests were administered to 33 participants in a 3-month intensive resident human growth program, at the beginning and end of the program and again 1-year later. A control group of 13 members of the families of some of the participants also took the tests on the same dates. The control group, showed no statistically significant changes on nearly all measured personality traits for the growth group participants were evident on post-testing and also 1 year later.

Adolescent↗
PubMed1980

Preventing mental retardation associated with gross obesity in the Prader-Willi syndrome.

Twenty-seven patients with Prader-Willi syndrome have been described, ten of whom did not receive comprehensive management, nine who were diagnosed and treated after becoming obese, and eight who were diagnosed in infancy and responded to early preventative treatment. Intelligence scores declined in the first two groups, but the group receiving early treatment maintained a mean IQ score 20 points higher than the other two. Even though the underlying mechanism of this disorder remains undefined, a comprehensive early intervention program appears to improve prognosis.

Adolescent↗
PubMed1977

Comparing treatment tactics with a hyperactive preschool child: stimulant medication and programmed teacher intervention.

Two treatment tactics, food and praise contingent on appropriate play and varying doses of methylphenidate (Ritalin), were evaluated for their effects on a preschool child's activity changes. In addition, other social, verbal, and academic behaviors were monitored to examine possible side effects of the two treatment tactics. Fewer free-play activity changes occurred during contingent reinforcement phases while medication had variable effects: increasing attention to tasks but, at higher doses, decreasing intelligibility of speech and responsiveness to mands. The study outlines a replicable model for comparing medication with alternative behavioral strategies to control hyperactivity and enhance skill development.

Achievement↗
PubMedDate not supplied

Does phenobarbital used for febrile seizures cause sleep disturbances?

The effect of phenobarbital on total sleep time, night awakenings, and lengthy awakenings was examined as part of a randomized trial of children with febrile seizures; information about sleep patterns was gathered by parental observation. Children were between ages 8-36 months at enrollment and were examined subsequently for 2 1/2 years. Night awakenings were not more common in children assigned to phenobarbital except for those who were poor sleepers at the beginning of the study. Total sleep time was no different in children assigned to phenobarbital than in those assigned to placebo. It is concluded that sleep problems reported in most young children with febrile seizures treated with phenobarbital did not exceed those reported in children treated with placebo, but a subset of predisposed children did experience an increase in night awakenings.

Child, Preschool↗