Alexander von Gontard

Rates for tic disorders and obsessive compulsive symptomatology in families of children and adolescents with Gilles de la Tourette syndrome

The aim of this study was to assess rates for tic disorders and obsessive compulsive psychopathology in families of children and adolescents with Gilles de la Tourette syndrome (TS). Diagnoses were based on the DSM III-R criteria. Obsessive compulsive psychopathology, that did not fulfill the criteria for obsessive compulsive disorder (OCD) was additionally assessed and termed obsessive compulsive symptoms (OCS). The authors hypothesized that comorbid OCD or OCS in TS patients predicts a higher familial loading with obsessive compulsive symptomatology. The study cohort included 87 patients with TS who were evaluated clinically and with the use of a structured psychiatric interview. All available parents (152/174; 87%), several sibs (49/93; 53%) and some second degree relatives (27/659; 4.1%) were also interviewed. For other first and second degree relatives the family history method was used. Familial rates for TS were clearly elevated. Rates for chronic tic disorders (CT) were considerably lower than in previous studies. Additionally, tic disorders not otherwise specified (TDNOS) were diagnosed in a substantial number of first degree (15/267; 5.6%) and second degree relatives (36/659; 5.5%). OCD in parents (4/174; 2.3%) did not occur in an above baseline rate. However, both OCD (14/87; 16.1%) and OCS (15/87; 17.2%) were frequently associated with TS in index patients. Interestingly, 10 of 16 fathers with OCS also had a tic disorder. Obsessive compulsive psychopathology clustered in families. It is concluded that genetic studies in TS could profit from adhering to a conservative diagnostic approach to both tic disorders and OCD. The familial clustering of OCS/OCD in conjunction with the elevated paternal rate for the co-occurrence of tic disorders and OCS might indicate heterogeneity of TS.

CENTRAL NERVOUS SYSTEM INVOLVEMENT IN NOCTURNAL ENURESIS: EVIDENCE OF GENERAL NEUROMOTOR DELAY AND SPECIFIC BRAINSTEM DYSFUNCTION

PURPOSEnTo assess the involvement of central nervous system factors in the etiology of childhood nocturnal enuresis, an ongoing study of the fine neurology and neurophysiology has been instituted.nnnMATERIALS AND METHODSnA total of 22 patients 8 to 14 years old were subcategorized sporadic and familial groups. Patients underwent a number of examinations, including a complete family pedigree; blood samples for linkage analyses; pediatric examination; urinalysis; uroflowmetry with pelvic floor electromyography; 24-hour flow charts; parental micturition questionnaire; child behavior checklist; intelligence test; standardized child psychiatric interview; acoustic, visual and event related late evoked potentials; Zurich Neuromotor Test Battery and the startle-blink paradigm. In this preliminary report only the results of the Zurich Neuromotor Test Battery and startle-blink paradigm are reported.nnnRESULTSnIn the Zurich Neuromotor Test Battery patients with enuresis had a longer timed performance but did not have more associated movements than the controls. In the startle-blink modulation paradigm inhibition of the electromyograph amplitudes was greatest following prestimulation with an interval of 120 milliseconds. This inhibition is known to be reduced among patients with enuresis compared to nonwetting children. The results indicated a general developmental (neuromotor) delay, in addition to specific dysfunction of the brain stem in patients with enuresis. The pre-pulse inhibition, as well as inhibition of bladder emptying at sleep, are regulated by brainstem centers in close anatomical proximity to the pontine micturition center and by analogous mechanisms.nnnCONCLUSIONSnReduced pre-pulse inhibition may represent a genetically transmitted trait indicative of nocturnal enuresis.

Day and Night Wetting in Children — A Paediatric and Child Psychiatric Perspective

Involuntary wetting is one of the most common symptoms of childhood, affecting 10% of all 7-year-olds at night and 3% during the day (Hellstrom, Hanson, Hansson, Hjalmas, & Jodal, 1990). It comprises a heterogeneous group of disorders that differ regarding aetiology, pathophysiology, clinical symptoms, and therapy. Day wetting was last reviewed in the Journal of Child Psychology and Psychiatry in 1979 (Berg, 1979). In the past two decades a wealth of information on the pathophysiology of nocturnal enuresis, as well as of diurnal wetting, has been won. This annotation will review clinically relevant aspects of both forms of wetting and will concentrate on findings from paediatric urology, paediatric nephrology, genetics, endocrinology, child psychiatry, and epidemiology. Medical and technical terms are explained in the Glossary. Specific child psychological aspects will not be dealt with, as these have been excellently reviewed elsewhere, especially for nocturnal enuresisn (Butler, 1987, 1994).

Proton spectroscopic metabolite signal relaxation times in preterm infants: A prerequisite for quantitative spectroscopy in infant brain

To determine relaxation times of metabolite signals in proton magnetic resonance (MR) spectra of immature brain, which allow a correction of relaxation that is necessary for a quantitative evaluation of spectra acquired with long TE. Proton MR spectra acquired with long TE allow a better definition of metabolites as N‐acetyl aspartate (NAA) and lactate especially in children.

No association between length of the (CAG)n repeat of the huntington's disease gene and tourette's syndrome

Huntingtons disease (HD) is a progressive, autosomal dominant disorder of the central nervous system characterized by motor, cognitive, and psychiatric abnormalities. The hallmark of HD is a distinctive choreie movement disorder that typically has a subtle insidious onset. The characteristic pathological features are neostriatal atrophy and neuronal loss. In vivo putamen and caudate volume measures revealed that the volume of the putamen and, to a lesser extent, of the caudate are reduced at early stages of the disorder, indicating atrophy of these basal ganglia nuclei (Harris et al., 1992). HD is caused by an expanded (CAG)n-repeat sequence near the 5 end of the respective gene (IT5), which maps to chromosome 4p16.3 (MacDonald et al. 1993). Molecular analysis of this repeat sequence revealed a range of 37-86 repeats in affected individuals and 11-34 repeats in normal controls (Duyao et al 1993). The number of repeats on the HD chromosome correlates negatively with the age at onset, regardless of sex of the transmitting parent.

Parental stress and coping in families with fragile X boys

The aim of this study was to identify the specific interactions between child characteristics, parental stress and coping, as well as intervening variables in families with a child with a fragile X syndrome (FXS). 49 boys with a FXS aged 5;7 to 16;10 years (x = 8.6) and a control group of 16 boys with tuberous sclerosis (TSC) aged 5;0 to 17;7 (x = 9.5) were recruited mainly through parental support groups. They were examined regarding: intelligence, comorbid psychopathology, social support of the family, parental stress, and coping. The mean IQ equivalents for the FXS (and the TSC patients) were between 46.1 and 48.8 (58.9 and 60.8) with a relatively homogeneous profile. The psychiatric comorbidity was higher for the FXS patients: 18.4% (25%) had no, 46.7% (25%) multiple diagnoses (DSM-IV), 89.8% (68.8%) had a CBCL (Child Behavior Checklist) total score in the clinical and borderline range. Families with an FXS child had a significantly higher total stress level and a lower degree of resources than the those with a TSC child (QRS; p < .01), especially regarding the ‘child characteristics’ (p < .001) and the ‘physical incapacitation’ (p < .01) scales. The higher stress in the FXS parents was significantly influenced by the higher rate of psychiatric diagnoses of the FXS children, but not by the general level of intelligence. Social support was high in both groups and inversely correlated with stress. Coping abilities did not differ between the two groups. The higher the stress was perceived in the FXS families, the less parents were able to cope actively and resorted to more passive forms of coping.In conclusion, parents of FXS boys have high level of social support and coping abilities. They experience significantly more stress, which is influenced by the childs behavioral problems. This stress negatively affects active parental coping.

Differentielle Therapie der Enuresis im Kindesalter

Enuresis wird nach ICD-10 als unwillkurlicher Harnabgang ab dem 5. Lebensjahr definiert, nachdem neurogene und strukturelle Ursachen ausgeschlossen wurden (Remschmidt und Schmidt 1994). Sie gehort zu den haufigsten Storungen des Kindesalters — so nassen ca. 10 % der 7jahrigen nachts und 3 % tags ein — und ist mit einem hohen Leidensdruck verbunden.