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Biomedical subjects

A von Gontard

Publications and source records attributed to A von Gontard.

At least 19 recordsLinked to original sources
PubMed2006

[Pain management and coping behaviour in premature babies (< 1500 g) at corrected age of 36 months influence of neonatal experience and maternal anxiety].

INTRODUCTION: Neonatal experience of pain and distress can lead to developmental problems, which can be associated with long-term emotional and behavioural disorders. The aim of the study was to analyse the effects of early experiences of pain and maternal reactions on the pain and coping behaviour of preterm infants. METHODS: In a prospective longitudinal study of 69 very low birth weight (VLBW) preterm infants, neonatal data regarding painful manipulations, analgesics and sedatives, and general medical condition (Nursery Neurobiological Risk Score; NBRS) were assessed. At the (corrected) age of 36 months, 53 preterm infants and a control group of 23 full-term infants were re-examined. Pain and coping behaviour were estimated by a questionnaire. Maternal anxiety was assessed in semi-structured interviews at the age of 3, 12 and 36 months in the preterm group. RESULTS: The mean gestational age was 29 + 0 weeks (23 + 3 to 34 + 1), the mean birth weight 1058 g (380 to 1480 g) in preterms and 39 + 3 weeks (37 + 0 to 42 + 0) and 3379 g (2400 to 4130 g), respectively, for the full-terms. The sex ratio was equal, 45.3 % of the preterms were multiples (controls 34.8 %). Preterms had higher descriptive scores for all types of pain situations. After controlling for other associated factors, a negative correlation between birth weight and later pain behaviour in medical situations remained. Preterms had a more negative coping behaviour during every day injuries. In terms of coping behaviour, only a shorter inpatient treatment in the neonatal period was associated with social withdrawal after controlling for other associated factors. Maternal anxiety at the age of 12 and 36 months was associated with negative coping behaviour following simple injuries. CONCLUSIONS: While preterms do not have a higher pain threshold in general, a subgroup does have a higher risk for later sensation to pain. Preterms use more unfavourable coping strategies in simple injuries which, in turn, seem to be decisively mediated by maternal anxiety. Future research should focus on psycho-social factors involved in the development of pain reactions, as these can predispose towards behavioural disorders.

Adaptation, Psychological↗
PubMed2004

[Psychological and psychiatric aspects of nocturnal enuresis and functional urinary incontinence].

Psychological factors play an important role in nocturnal enuresis and functional urinary incontinence. The comorbidity of enuresis/urinary incontinence and clinical mental disorders as well as subclinical psychological symptoms is reviewed. In epidemiological as well as clinical studies, 20-40% of all children with nocturnal enuresis have a manifest clinical disorder-two to four times higher than nonwetting children. Children with secondary nocturnal enuresis and voiding postponement carry the highest risk for a mental disorder and those with urge incontinence and primary monosymptomatic nocturnal enuresis the lowest.Internalizing disorders (such as depressive and anxiety disorders) are less common than externalizing ones (such as ADHD). In addition, subclinical emotional and behavioral symptoms are common. These will often recede upon attaining dryness and self-esteem can increase. General screening for psychological symptoms and disturbances is recommended.

Adolescent↗
PubMed2004

[Mother-infant Interactions with Very Low Birth Weight multiple newborns (< 1500 g). A comparison of mother-multiple and mother-single births].

BACKGROUND: Assisted reproductive techniques and fertility enhancing therapies have increased the rate of multiple births and, therefore, the risk of prematurity. Our hypothesis is that mothers of preterm multiples are less able to provide such enhancing interactions than mothers of preterm singletons, resulting in a developmental disadvantage for preterm twins and triplets. PATIENTS AND METHODS: Of 77 very low birth weight preterms (VLBW) who were examined prospectively with their mothers in a longitudinal study, 35 were multiples and 42 were singletons. At a corrected age of three months the quality of the mother-infant interaction with multiples vs. singletons was examined. The Mannheim Rating System, a 40-item standardized observation instrument based on a 10 minute videotaped sequence of interaction, was used. RESULTS: The analyses showed several differences between mother-singleton and mother-multiple interactions. Mothers of multiples were less stimulating and reactive and showed less babytalk. Multiple infants were also less reactive than singletons. In mother-multiple dyads there were less verbal exchanges between mother and child. CONCLUSIONS: There are definite differences in mother-multiple compared to mother-singleton interactions, so that VLBW multiples may be at even greater risk for negative mother-infant interactions than singletons.

Adult↗
PubMed2003

[Elimination disorders in childhood. How to make children dry and clean].

Evacuation disorders include a number of disturbances in which genetic and environmental factors play a highly differentiated role. Behind enuresis nocturna is a genetic CNS development disorder; a differentiation is made between cases with and without diurnal bladder dysfunction. In the first line treatment involves the use of an alarm device, while desmopressin is a second-choice treatment. In children with diurnal enuresis, there is a range of functional disorders of continence to be considered including, in particular, idiopathic urge incontinence, urinary incontinence when micturition is suppressed, and detrussor sphincter dyscoordination. Prominent among the therapeutic options are cognitive-behavioral measures and biofeedback training. Encopresis may develop on the soil of acute constipation or underlying psychological factors. Treatment is symptom-oriented and also comprised behaviorial measures (toilet training), possibly dietary measures and, in the event of constipation, enemas or oral laxatives.

Adolescent↗
PubMed2003

Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings.

Spinal muscular atrophy (SMA) is a chronic illness characterized by loss of motor function. The aim of the study was to investigate behavioural adjustment in 96 children and adolescents with SMA (47 males, 49 females; mean age 11 years 2 months, range 6 to 18 years). Forty-five non-affected siblings (26 males, 19 females; mean age 11 years 6 months, range 6 to 18 years) and 59 normally developing children (33 males, 26 females; mean age 10 years 8 months, range 6 to 18 years) were recruited as control participants. Behavioural symptoms were measured with the Child Behaviour Checklist (CBCL) and disorders were assessed with a structured psychiatric interview (Kinder-DIPS). Of the patients with SMA, 12.5% fulfilled the criteria for an ICD-10 or DSM-IV diagnosis, with separation anxiety disorder being the most common diagnosis. The CBCL total score was in the clinical range for 11.5% of patients, 20% of the siblings, and 11.7% of the control children; the externalizing score rates were 2.1%, 22.2%, and 11.9% respectively; the internalizing score 18.9%, 24.4%, and 13.6% respectively. Comorbid psychopathology was not influenced by sex, IQ, nor severity of SMA, and only externalizing behaviour was correlated to age. In conclusion, children and adolescents with SMA are characterized by a low psychiatric comorbidity not different from control individuals. The group with the highest rate of behavioural problems and with the greatest need for intervention were the non-affected siblings who had a two- to threefold higher rate of behavioural problems than the normative population.

Adolescent↗
PubMed2002

Intelligence and cognitive function in children and adolescents with spinal muscular atrophy.

Spinal muscular atrophy is a chronic disease characterised by loss of motor function. The aim of the study was to analyse cognitive functions in a large group of patients with spinal muscular atrophy. It was hypothesised that their intelligence is comparable to controls, but not above average as previously postulated. Ninety-six children and adolescents with spinal muscular atrophy I-III, aged 6.0-18.11 years, 45 non-affected siblings and 59 healthy, matched controls were examined with one- (CPM/SPM), as well as multi-dimensional intelligence tests (Kaufman-ABC; Wechsler tests). The mean IQ measured with the CPM/SPM tests was 109.6 for the spinal muscular atrophy group, 107.3 for the sibs and 104.1 for the healthy controls (no significant difference). In the older children and adolescents (SPM only) the mean IQ was significantly higher for the spinal muscular atrophy patients (109.6) than for the controls (95.4). The standard score in the 'mental processing composite' scale of the Kaufman-ABC was identical in the spinal muscular atrophy group and controls (103.8). The cognitive profile was relatively homogeneous. However, the older children and adolescents did have a significantly higher verbal IQ (113.8) than controls (104.6) in the Wechsler tests. There were no significant differences in any of the tests among different grades of severity (spinal muscular atrophy types I-III). It can be concluded that children and adolescents with spinal muscular atrophy have a general intelligence in the normal range. By adolescence, environmentally mediated aspects of intelligence are higher in patients with spinal muscular atrophy. It could be speculated that the development of cognitive skills and knowledge is a creative way to compensate the many restrictions due to their physical handicap.

Adolescent↗
PubMed2002

[Waived EEG diagnosis before administration and during drug therapy with methylphenidate: dangerous or justifiable?].

OBJECTIVES: The issue of whether or not to perform an EEG before or during therapy with psychostimulants currently is a topic of controversial discussion. Only a few studies have described the types of EEG alterations that occur in patients without epilepsy who are being treated with psychostimulants. The aim of our study was to assess the types of change in the EEG that occur before and during this treatment so as to be able to formulate recommendations for EEGs in children with ADHD. METHODS: The EEGs of 124 children and adolescents with ADHD before and during treatment with methylphenidate were analyzed retrospectively. RESULTS: In summary the rate of hypersynchronous activity (HSA) during therapy with methylphenidate does not increase. Patients on antiepileptic medication did not show any increased rates of seizures or HSA. CONCLUSIONS: Whether or not methylphenidate medication influences the occurrence of epileptic seizures remains unsettled. Given the data from this study, we would conclude that an EEG during therapy with methylphenidate is not necessary. Before commencing a planned methylphenidate therapy, however, an EEG should be performed.

Adolescent↗
PubMed2002

Urge incontinence and voiding postponement in children: somatic and psychosocial factors.

AIM: To analyse the number of urinary tract infections, uroflowmetry, behavioural symptoms and intrafamilial interaction in two groups of daytime wetting children in a paediatric and a child psychiatric unit. METHODS: Ninety-four children with either voiding postponement (52) or urge incontinence (42) were examined prospectively for history of urinary tract infections (UTIs), uroflowmetry, the syndrome scales of the Child Behaviour Checklist (CBCL 4/18-Achenbach) and the Family Adaptability and Cohesion Evaluation Scales (FACES-III) (Olson) questionnaire. RESULTS: Children with urge incontinence had a significantly higher rate of previous urinary tract infections (50%) than children with voiding postponement (19.2%; p < 0.001), who showed a high rate of plateau (12.2%) and staccato (20.4%) curves and were characterized by a wide variety of behavioural symptoms, including withdrawn (11.6%), aggressive (11.8%), delinquent (19.6%) behaviour and attention problems (13.7%). Clinically relevant behavioural scores were 4-10 times higher for the voiding postponers, and 2-3 times higher for children with urge incontinence. Furthermore, families of voiding postponers had significantly fewer balanced types of intrafamilial function (FACES-III). Problematic "rigid/disengaged" and "rigid/separated" types predominated. CONCLUSION: Urge incontinence is characterized by a higher rate of UTIs, a lower urine volume in uroflowmetry, a lower rate of behavioural scores in the clinical range and well-functioning families. Voiding postponement children, on the other hand, have a higher, though not significant, rate of abnormal uroflow curves, a wide variety of clinically relevant behavioural symptoms, which were significantly higher for attention and delinquent problems. Conduct problems predominated; only 13.7% of the children had attention problems in the clinical range. The findings lend empirical support to the entity of voiding postponement as an acquired or behavioural syndrome characterized by wetting in association with a delay of micturition and other externalizing conduct problems.

Age Distribution↗
PubMed2002

Psychopathology and familial stress - comparison of boys with Fragile X syndrome and spinal muscular atrophy.

BACKGROUND: Chronic illness and mental retardation are both associated with an increased rate of behavioural problems in children and with considerable emotional strain in families. The aim of the study was to analyse and compare the specific effects of two exemplary conditions on familial stress and coping. METHODS: Forty-nine boys with Fragile X syndrome (FXS) were compared with 46 boys with Spinal Muscular Atrophy (SMA) and 32 male controls. Intelligence was measured with the RAVEN or K-ABC tests. Psychopathology was assessed with the CBCL questionnaire and a structured psychiatric interview (Kinder-DIPS), parental stress with the QRS, coping with the F-COPES and social support with the F-SOZU questionnaires. RESULTS: The mean age of the FXS boys was 8.6, of the SMA boys 12.7 and of the controls 11.2 years. The mean IQ was 47 for the FXS, 112 for the SMA and 103 for the control groups. According to the CBCL, 89.8% of the FXS boys, 21.7% of the SMA and 15.7% of the controls had a total score in the borderline or clinical range. The rates were 63.3%, 34.8% and 21.9% for internalising and 67.3%, 10.9% and 18.8% for externalising behaviour, respectively. 81.6% of the FXS and 10.9% of the SMA patients had a DSM-IV or ICD-10 psychiatric diagnosis. The most common were ADHD (FXS: 36) and Separation Anxiety Disorder (SMA: 4). In total, parental stress was significantly higher in the FXS than in the SMA families (and in both compared to controls). There were no major inter-group differences regarding social support and familial coping. CONCLUSIONS: Children with FXS are severely mentally retarded and have a high rate of mainly externalising disorders. Despite good coping abilities and social support, this is associated with high familial stress. The SMA boys, with an intelligence in the upper normal range, are no more deviant than their healthy controls. Parental stress is lower in the SMA families with good coping abilities. In conclusion, families with mentally retarded children are in even greater need of help than those of children with severe chronic illness/physical handicap.

Adaptation, Psychological↗
PubMed2001

Pericardial effusions in anorexia nervosa.

Anorexia nervosa is an eating disorder that may be accompanied by cardiac symptoms of varying severity. So far disturbances like arrhythmias, mitral valve prolapse and loss of cardial ventricle mass have been described. Other somatic complications consist of electrolyte and acid-base imbalances, which in turn influence cardiac function. Between 1990 and 1999 we observed ten case reports from inpatient anorexic female adolescents, who developed pericardial effusions in the course of their illness. The diagnosis and course was revealed by echocardiography. No signs of heart failure could be noticed. In eight patients pericardial effusion remitted completely or partly by a concurrent increase in weight. A distinct pathophysiology for the development of pericardial effusion could not be revealed, but a correlation to restoration of weight seems to exist. Our report suggests that pericardial effusions are more frequent cardiac complications in anorexia nervosa than previously known. In most cases the clinical significance is doubtful.

Adolescent↗
PubMed2001

Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy.

OBJECTIVE: To assess the rate and type of urinary incontinence in a large sample of children and adolescents with spinal muscular atrophy (SMA), a genetic disorder characterized by loss of motor function caused by anterior horn degeneration. PATIENTS, SUBJECTS AND METHODS: The study included 96 severely incapacitated patients with SMA (aged 6.0-18.11 years) who were examined in detail, including a structured interview (Kinder-DIPS), the Child Behaviour Checklist (CBCL) and a specific questionnaire for urinary incontinence. They were compared with two control groups of unaffected siblings and normal children. RESULTS: In all, 29% of the patients were wet at night and/or during the day; mostly younger children with SMA types I and II only were affected. The results of the interview were more reliable than the CBCL. The specific questionnaire revealed a variety of possible functional and neurogenic forms of wetting, including nocturnal enuresis, voiding postponement, dysfunctional voiding, stress, symptomatic (urinary tract infections, UTIs) and neurogenic incontinence. Many patients were constipated, soiled or had UTIs. The rate of behavioural problems was twice as high (32%) as normal (15%; CBCL). CONCLUSION: Children with SMA have a high rate of urinary incontinence which is often overlooked, and not diagnosed and treated adequately. These problems should be addressed routinely by paediatricians in children referred to paediatric urological specialists.

Adolescent↗
PubMed2001

The genetics of enuresis: a review.

PURPOSE: Formal studies of the genetics of enuresis have been performed since the 1930s and molecular genetics since 1995, both highlighting the importance of hereditary factors in the etiology of nocturnal enuresis. We summarize the current state of knowledge with respect to the genetics of nocturnal enuresis and its genotype-phenotype interactions. MATERIALS AND METHODS: A comprehensive review of the published data available on the genetic basis of enuresis was performed. RESULTS: Genetic factors are the most important in the etiology of nocturnal enuresis but somatic and psychosocial environmental factors have a major modulatory effect. Most commonly, nocturnal enuresis is inherited via an autosomal dominant mode of transmission with high penetrance (90%). However, a third of all cases are sporadic, and the difference between sporadic and familial forms is not known. Four gene loci associated with nocturnal enuresis have been identified but the existence of others is presumed (locus heterogeneity). All likely candidate genes have been excluded so far. There is no specific association among the different loci, type of wetting and other aspects of the phenotype. All subtypes of nocturnal enuresis (primary, secondary, combined day/night wetting) are susceptible to comparable genetic influences. Certain syndromes of day wetting follow their own genetic mechanisms but this association with the genetics of nocturnal enuresis is not known. CONCLUSIONS: Nocturnal enuresis is a common, genetic and heterogeneous disorder. The associations between genotype and phenotype are complex and are susceptible to environmental influences. Therefore, exact assessment of the clinical phenotype and identification of intermediary phenotypes or traits are needed. Future research will focus on the identification of genes, gene products and their interaction with environmental factors.

Child↗
PubMed2000

Cognitive and behavioral profile of fragile X boys: correlations to molecular data.

Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is associated with transcriptional silencing of the FMR1 gene. The lack of FMR1 protein is believed to be responsible for the typical physical and mental characteristics of the syndrome. To analyze the specific phenotype of that syndrome as well as possible associations between the phenotype and the genotype, we examined a group of 49 fragile X boys and a control group of 16 patients with tuberous sclerosis. To determine the cognitive and behavioral phenotype, the Kaufman Assessment Battery for Children (K-ABC), the Child Behavior Checklist (4/18), and a structured psychiatric interview (Kinder DIPS) were used. The genotype was analyzed by the Southern blot method. The phenotype of boys with FXS is characterized by a specific cognitive profile with strengths in acquired knowledge and in simultaneous processing. The psychiatric comorbidity is high and ADHD (attention deficit hyperactivity disorder), oppositional defiant disorder, enuresis, and encopresis predominate. In a group of 24 fragile X boys, no significant correlations between the specific aspects of the phenotype and the genotype were found.

5' Untranslated Regions↗
PubMed2000

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hypermethylated. Inactivation of the FMR1 promoter and absence of the FMR1 protein are the likely cause of the syndrome. By using the bisulfite protocol of the genomic sequencing method, we have determined the methylation patterns in this region on single chromosomes of healthy individuals and of selected premutation carriers and FRAXA patients. In control experiments with unmethylated or M- Sss I-premethylated DNAs, this protocol has been ascertained to reliably detect all cytidines or 5-methylcytidines as unmethylated or methylated nucleotides, respectively. Analyses of the DNA from FRAXA patients reveal considerable variability in the lengths of the 5'-(CGG)(n)-3' repeats and in the levels of methylation in the repeat and the 5'-UTR. In one patient (OEl) with high repeat length hetero-geneity ( n = 15 to >200), shorter repeats (n = 20-80) were methylated or unmethylated, longer repeats ( n = 100-150) were often completely methylated, but one repeat with n = 160 proved to be completely unmethylated. This type of methylation mosaicism was observed in several FRAXA patients. In healthy females, methylated 5'-CG-3' sequences were found in some repeats and 5'-UTRs, as expected for the sequences from one of the X chromosomes. The natural FMR1 promoter is methylation sensitive, as demonstrated by the loss of activity in transfection experiments using the unmethylated or M- Sss I-premethylated FMR1 promoter fused to the luciferase gene as an activity indicator.

5' Untranslated Regions↗
PubMed1999

Clinical behavioral problems in day- and night-wetting children.

In this prospective, clinical study of 167 consecutive wetting children, the associations between specific forms of day and night wetting and clinical behavioral symptoms according to a parental questionnaire (Child Behavior Checklist; CBCL), as well as ICD-10 child psychiatric diagnoses are analyzed. For the entire group, the proportion of children with at least one ICD-10 diagnosis was 40.1% and for the CBCL total problems scale 28.2% - three times higher than in the general population. Expansive disorders (21%) were twice as common as emotional disorders (12%). A significantly higher (P<0. 05) proportion of day-wetting children had at least one diagnosis (52.6%) and emotional disorders (19.5%) compared with nocturnal enuretics (33.6% and 8.2%, respectively). Secondary nocturnal enuretics had significantly higher CBCL total problem scores (39.3% vs. 20.0%, P<0.05) as well as psychiatric ICD-10 diagnoses (75% vs. 19.5%, P<0.001) than primary enuretics. Children with primary monosymptomatic enuresis had the lowest rate of CBCL total behavioral symptoms (14.5%) and diagnoses (10%). Of the day-wetting children, those with voiding postponement had more expansive disorders (39.3% vs. 13.6%, P<0.05) and externalizing symptoms (37% vs. 19.%, NS) than those with urge incontinence. In summary, a third of wetting children showed clinically relevant behavioral problems with specific psychiatric comorbidity for the subtypes. A more-detailed differentiation into syndromes rather than into day/night and primary/secondary forms is needed.

Child↗
PubMed1999

Somatic correlates of functional enuresis.

Functional enuresis is a heterogeneous group of syndromes with different aetiology and pathophysiology. The aim was to identify specific somatic correlates of enuresis non-invasively in child psychiatric patients after exclusion of neurologic and structural forms of incontinence. One hundred sixty-seven consecutive children, aged 5 to 10 years with day and/or night wetting were examined prospectively with: urinalysis and bacteriology; ultrasonography, including bladder wall thickness and residual volume; uroflowmetry and pelvic-floor-EMG; EEG; and a complete paediatric-neurologic examination. Day wetting children had a significantly higher rate of previous antibiotic prophylaxis, larger residual volume, thicker bladder walls; the uroflow curves were significantly less bell- and more staccato-shaped, the EMG less relaxed. Voiding postponers showed a tendency towards more uroflow anomalies than urge incontinent children. Primary and secondary enuretics did not differ on most parameters, but primary nocturnal enuretics with micturition problems had significantly less relaxed EMGs than monosymptomatic enuretics. Although day wetters had more pathological EEGs and neurological signs, these differences did not reach significance. The overall rate of urogenital anomalies was 10%. In conclusion, enuresis has a high rate functional somatic correlates with clinical and theoretical, classificatory implications.

Child↗
PubMed1999

[Urodynamics in diagnosis and therapy of "enuresis"--relevance for child and adolescent psychiatry].

Enuresis and functional urinary incontinence are clinically and pathophysiologically heterogeneous disorders. They differ with regard to their urodynamics, i.e. with regard to the function or dysfunction of the urinary tract. In addition to general measures such as history, physical examination, urinalysis, questionnaires and flow charts, noninvasive sonography and uroflowmetry with pelvic-floor EMG play an important role in diagnosis and therapy. Rates of pathological findings are especially high among day-wetting children and nocturnal enuretics with micturition problems. This group requires a detailed diagnosis, especially children with detrusor-sphincter discoordination, which can be treated effectively by means of uroflow-biofeedback. The relevance of these methods in child and adolescent psychiatry are discussed in detail and practical recommendations are made.

Adolescent↗