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Biomedical subjects

L M Curfs

Publications and source records attributed to L M Curfs.

At least 19 recordsLinked to original sources
PubMed2000

Activity related energy expenditure in children and adolescents with Prader-Willi syndrome.

OBJECTIVE: To measure activity related energy expenditure in Prader-Willi syndrome (PWS) corrected for body size. SUBJECTS: 17 PWS subjects (10 females, seven males, age 7.5-19.8 y) and 17 obese controls, matched for gender and bone age. MEAUREMENTS: Basal metabolic rate (BMR) was measured by ventilated hood and average daily metabolic rate (ADMR) was measured with doubly labelled water. Activity induced energy expenditure (AEE) was calculated as 0.9ADMR -BMR. Activity related energy expenditure was corrected for body size using the following measures: AEE per kg body weight (AEE/kg), ADMR/BMR (PAL), and the residual of the regression of ADMR on BMR (rADMR). Group differences were analyzed by analysis of covariance adjusting for bone age, fat mass (FM) and gender. RESULTS: ADMR, AEE and PAL were lower (P < 0.01) in the PWS group compared with the control group (7.14 +/- 1.72, 1.07 +/- 0.69 and 1.33 +/- 0.15 MJ/day compared with 9.94 +/- 2.64, 2.56 +/- 1.03 and 1.55 +/- 0.12 MJ/day respectively). The variance of AEE/kg and PAL was significantly explained by gender and PWS, while AEE was additionally explained by FM. The variance of rADMR was explained by PWS and not by FM or gender. CONCLUSION: Activity related energy expenditure is decreased in PWS compared with controls adjusted for bone age, FM and gender.

Adolescent↗
PubMed2000

Energy expenditure at rest and during sleep in children with Prader-Willi syndrome is explained by body composition.

BACKGROUND: Obesity in Prader-Willi syndrome (PWS) seems to be related to a low basal metabolic rate (BMR). In addition, abnormal sleep patterns reported in PWS might affect sleeping metabolic rate (SMR). OBJECTIVE: Our objective was to assess BMR and SMR adjusted for fat-free mass in young PWS patients. DESIGN: Subjects were 17 PWS patients (10 females and 7 males aged 7.5-19.8 y) and 17 obese control subjects matched for sex and bone age. SMR was measured in a respiratory chamber, BMR with a ventilated-hood system, and body composition by deuterium dilution. RESULTS: BMR and SMR were significantly lower in the PWS group than in the control group (5.36 +/- 1.18 and 4.62 +/- 1.08 MJ/d compared with 6.38 +/- 1.55 and 5.60 +/- 1.52 MJ/d, respectively; P < 0.05). When fat-free mass was included in the analysis, multiple regression showed no differences in BMR and SMR between groups. When weight was included in the analysis instead of fat-free mass, SMR was lower in the PWS group. Fat-free mass was lower in the PWS group both as an absolute value and when adjusted for height. CONCLUSION: BMR and SMR are low in young patients with PWS because of a low fat-free mass.

Adolescent↗
PubMed2000

Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome.

Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome: Similar to the studies on behavioural phenotypes, it is suggested to more rigorously promote the investigation of psychopathological phenotypes. The psychopathological profile in patients with Prader-Willi Syndrome (PWS) or Velo-Cardio-Facial Syndrome (VCFS) appears to be not classifiable within the current nosological systems. On a descriptive level, PWS-psychotic states show similarities with the cycloid psychoses, but VCFS psychosis does not. It is therefore advocated to adopt the notion of a brain-structure phenotype as well as that of a syndrome-specific psychiatric disorder.

Adult↗
PubMed1999

Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome.

The aim of the present study was to identify the psychosocial problems of parents of a child with Prader-Willi syndrome or a child with Angelman syndrome. In addition, the strategies these parents apply to cope with these problems as well as their need for information are described. To assess these topics, parents filled in a self-report questionnaire. Both parent groups were found to have a high need for information, high feelings of loss of control, relatively high depressive feelings, particularly in mothers in both syndrome groups. Differences due to the type of syndrome were found on the fear factor. Parents of a child with Angelman syndrome had greater feelings of fear for the negative consequences for themselves, whereas parents of Prader-Willi children were more concerned about the consequences for the child. In general, coping strategies were not found to be different between the parent groups of children who had either type of syndrome.

Adaptation, Psychological↗
PubMed1999

Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study.

Sleeping problems are common among children with Wolf-Hirschhorn syndrome. Extinction may be effective if sleeping problems have been shaped and are positively reinforced by parental attention. The present study shows that extinction was effective in the treatment of severe sleeping problems in a six-year old girl with Wolf-Hirschhorn syndrome. Effects were maintained during follow-up.

Abnormalities, Multiple↗
PubMed1998

Functional assessment and treatment of sleeping problems with developmentally disabled children: six case studies.

Sleeping problems are common among developmentally disabled children of young age and they may have adverse effects on the well-being of both child and parents. In the present study, results from functional assessment with four children suggested that sleeping problems were reinforced by parental attention whilst an undiagnosed seizure disorder was associated with nighttime crying with one child. Conditioned anxiety resulted in problems in settling to sleep with a sixth child. Behavioral (i.e., extinction, desensitization) and pharmacological (i.e., anticonvulsant) treatment resulted in a substantial reduction in sleeping problems with all children. Follow-up data indicate that effects were maintained.

Anticonvulsants↗
PubMed1998

Prader-Willi syndrome and psychotic symptoms: 1. Case descriptions and genetic studies.

Six people with Prader-Willi syndrome (PWS) who developed psychoses are described. Along with other literature reviewed in the present paper, the results imply an association between PWS and psychotic symptoms. Genetic studies were possible in five cases and SNRPN expression was examined in three cases. Maternal uniparental disomy and 15q11q13 deletions were found, demonstrating that psychotic symptoms are not associated with a single type of genetic abnormality.

Adolescent↗
PubMed1998

Prader-Willi syndrome and cycloid psychoses.

The psychiatric symptomatology of people with Prader-Willi syndrome (PWS) has mainly been described in case reports and some large-scale descriptive studies. Unfortunately, there is still no systematic description of all the psychiatric symptoms which accompany this chromosomal error. Symptoms of mood disorder and anxiety dominate the picture of PWS, although some reports also mention psychotic symptoms with variations in prevalence of between 15% and 60%. The present paper presents six case reports of adult male subjects with a diagnosis of PWS and psychiatric symptoms who fulfill the criteria for cycloid psychosis (ICD-10 F.23.0). This psychotic disorder requires a specific psychopharmacological approach with mood stabilizing agents, particularly Lithium. It is concluded that subjects with PWS may be especially vulnerable to the development of cycloid psychosis, which suggests the existence of a specific 'psychopathological phenotype'.

Adult↗
PubMed1998

Problem behaviors and personality of children and adolescents with Prader-Willi syndrome.

OBJECTIVE: Compare behavioral and emotional problems of children and adolescents with Prader-Willi Syndrome (PWS) and clients consulting mental health centers (MHC) and related behavioral and emotional problems to the children's personality in the PWS group. METHODS: Participants were 39 children with PWS and 585 matched MHC clients. Child Behavior Checklist (CBCL) syndromes were related to the Big-Five personality factors measured with the California Child Q-sort (CCQ). RESULTS: Mean CBCL Total Problems scores were not different for the PWS and MHC groups, but differences were found for several of the CBCL subscales. Patterns of correlations among CBCL scales were similar in both groups, although coefficients were generally higher in the PWS group, indicating higher comorbidity or co-absence of CBCL syndromes in children and adolescents with PWS. Personality profiles were specific for internalizing and Externalizing problems of children and adolescents with PWS.

Adolescent↗
PubMed1998

Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome.

The personality profiles for youths with Prader-Willi, fragile-X, or Williams syndrome were compared to three matched groups attending regular schools. Using the California Child Q-Set (CCQ), both of the parents of the 39 children with Prader-Willi syndrome, 32 boys with fragile-X syndrome, 28 children with Williams syndrome, and children in the comparison groups provided independent personality descriptions in terms of the Big Five personality factors of Extraversion, Agreeableness, Conscientiousness, Emotional Stability, and Openness, along with Motor Activity and Irritability. Specific personality phenotypes for each of the three syndrome groups were found to be differentially related to parental behaviours (i.e. control and anger) and family contexts (i.e. experienced family stress, marital conflict, and parental consistency).

Adolescent↗
PubMed1997

Hyperacusis in Williams syndrome: a sample survey study.

Williams syndrome is a true multiple congenital anomalies mental retardation syndrome affecting the vascular, connective tissue and the central nervous system. Affected individuals have a distinctive neuropsychological profile characterized by extremely poor visuospatial skills but relatively preserved verbal skills. A very striking characteristic is the hyperacusis or over-sensitivity to particular sounds. Klein et al. (4) found high rates (95%) of auditory over-sensitivity in a sample of Williams patients. The cause and mechanisms of auditory-over-sensitivity in Williams syndrome remain unclear. Some association has been suggested between hyperacusis and the occurrence of otitis media and also between hyperacusis and hyperactivity. The present study reports the results of an investigation into the occurrence of hyperacusis, otitis media and hyperactivity in a large group (N = 82) of Dutch speaking subjects with Williams syndrome from Belgium and The Netherlands. Prevalence and characteristics of hyperacusis and co-occurrence with otitis media and hyperactivity will be discussed and some management strategies are offered.

Adolescent↗
PubMed1996

Mental status of females with an FMR1 gene full mutation.

The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the intelligence quotients (IQs) were ascertained by the Wechsler Adult Intelligence Scale in 33 adult females with a full mutation, with 28 first-degree adult female relatives (mainly sisters) without a full mutation as controls. Seventy-one percent of the females with a full mutation had IQ scores below 85. In paired analysis, no significant correlation could be detected between the IQs of the females with a full mutation and those of their first-degree female relatives, reflecting a dominant effect of the FMR1 gene full mutation in the mental development of females. Considering females with a full mutation only, we observed a significant relation between the proportion of normal FMR1 alleles on the active X chromosome and IQ. We present a model to explain this relationship.

Adult↗
PubMed1995

Personality profiles of youngsters with Prader-Willi syndrome and youngsters attending regular schools.

For the study of the personality profile of youngsters with Prader-Willi syndrome (PWS), a PWS group was compared with a matched group of youngsters attending regular school. The PWS group consisted of 28 youngsters (12 males and 16 females; mean age 11 years, 11 months). These youngsters were matched on gender and age level with 28 youngsters out of a group of 333 youngsters in regular school. Behaviour and personality characteristics of each youngster in both groups were described by both parents, using a Dutch version of the California Child Q-set (CCQ; Block & Block 1980). The present authors compared the scores of both groups on eight personality dimensions, derived from the aggregated CCQ-descriptions for fathers and mothers. The personality dimensions were Extraversion, Agreeableness, Conscientiousness, Emotional Stability, Openness, Motor Activity, Irritability and Dependency. The authors investigated further individual differences of PWS youngsters on the same eight CCQ personality dimensions, considering gender and age level as well as IQ level and the presence or absence of a 15q11-q13 deletion. The personality profile of PWS youngsters was markedly different from youngsters in regular school. Some personality characteristics were related to gender and IQ. The lower level of physical activity in PWS girls without 15q11-q13 deletion needs further study.

Adolescent↗
PubMed1994

A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.

In this report we present the results of psychological investigations in a family in which 11 individuals, 7 females and 4 males, have a deletion of 1.6 Kb proximal to the CGG repeat of the FMR1. All 4 males with the deletion and 2 of the female carriers show characteristics of the fragile X clinical and behavioural phenotype. The findings in the present family illustrate that the typical characteristics of the fragile X syndrome can be caused by other types of mutations involving the FMR1 than the highly expanded stretches of CGG repeats in the 5' noncoding region of the FMR1 gene, coinciding with abnormal methylation patterns in that area as present in the vast majority of individuals with the fragile X syndrome.

Adolescent↗
PubMed1994

The Prader-Willi syndrome: a self supporting program for children, youngsters and adults.

The Prader-Willi syndrome is characterized by four cardinal symptoms i.e. hypotonia, hypogonadism, mental retardation and extreme obesity. Behavioural and psychological problems are frequent in these patients, mostly related to the withholding of food and the necessity of diet control. A treatment program has been developed for their eating problems. The treatment program is based on three points: 1. The importance of teaching them healthy eating habits within a specific eating culture. 2. The convinction that their obsession and fixation on food can be canalized and satisfied by being occupied, by playing and by learning about food. 3. The opinion that involvement and active participation in their diet is necessary to prevent behavioural problems and to stimulate "self control". The key objective of this program are to control the weight gain and to prevent behavioural problems. Based on these two main objectives, we developed a program based on four principles: a personal low calorie diet, the principles of behaviour modification, stimulation of motor skills and other developmental areas, and parental participation and education. This program is applied in group situation and in individual cases. The results of the present study in 4 children are encouraging. We noted an average weight loss of 2.25 kg, with an average increase of height of 3.5 cm. On intelligence testing we found that the scores on the performal subtests improved while the scores on the verbal subtests decreased. Little change occurred in the behavioural profile.

Adolescent↗
PubMed1993

Adaptive behavior in the fragile X syndrome: profile and development.

In this study we present data on the adaptive behavior profile and on the development of adaptive functioning in 39 fragile X [fra(X)] males, age 4-26 years. Social adaptability is relatively well developed as compared to cognitive level and especially self-help skills continue to grow with age despite a stagnation in intellectual growth.

Activities of Daily Living↗
PubMed1993

Mental status and fragile X expression in relation to FMR-1 gene mutation.

The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat in the FMR-1 gene. Clinical expression is associated with a large expansion of the CGG repeat. The mutation in the FMR-1 gene and the cytogenetic expression of the fragile site at Xq27.3 have been studied in 52 fragile X male patients. The percentage of the cytogenetic expression of the fragile site at Xq27.3 positively correlates with the mean size of the full mutation in the FMR-1 gene (p < 0.0001) irrespective of the presence of additional premutation alleles. We noted a less frequent occurrence of additional premutation alleles in adult patients compared with juveniles, suggesting a continued mitotic instability in life. Additionally, the level of mental retardation has been ascertained in 35 patients using the Stanford-Binet or Terman-Merrill test of general intelligence. The presence of a full mutation in the FMR-1 gene seemed decisive for the occurrence of mental impairment in the patient. No correlation is observed between the degree of mental retardation and the size of the full mutation. The degree of mental retardation seemed not to be influenced by the presence of premutation alleles in part of the cells in addition to a full mutation. One patient is described with the 'Prader-Willi-like' subphenotype of the fragile X syndrome, showing a deletion in the FMR-1 gene in a part of his cells in addition to a full mutation.

Adult↗