The clinical diagnosis of the narcoleptic syndrome.

Sleep-wake habits and control of postural muscle tone were investigated by self-report questionnaire in 183 subjects considered to have the narcoleptic syndrome, 62 subjects with hypersomnia and 10 with obstructive sleep apnoea. Results were compared with those in a group of 188 control subjects with normal sleep wake habits. Excessive daytime sleepiness, determined by the Epworth Sleepiness Scale (ESS), was five times greater in the narcoleptic syndrome than in control subjects (score range 0-24, mean scores +/-SD 19.

The difference between activity when in bed and out of bed. I. Healthy subjects and selected patients.

The activity records of five groups of healthy or ill subjects have been measured for 4-26 days by an accelerometer placed on the nondominant wrist. These data, together with a record of times retiring to/rising from bed, have been used to produce a series of dichotomy indices for comparing the amounts of activity when in bed and out of bed. Reliable differences between individuals were found, with healthy subjects showing a greater degree of dichotomy than one subject with delayed sleep phase syndrome or three subjects with colorectal cancer.

Linkage analysis and exclusion of regions of chromosomes 3 and 8 in Gilles de la Tourette syndrome following the identification of a balanced reciprocal translocation 46 XY, t(3:8)(p21.3 q24.1) in a case of Tourette syndrome.

Gilles de la Tourette syndrome (GTS) and related disorders such as chronic multiple tics and obsessive compulsive behaviour are likely to be genetically transmitted with a Mendelian autosomal dominant mode of transmission. Following our discovery of a patient with GTS who also carried a balanced translocation 46 XY, t(3:8) (p21.3 q24.

Treatment in the narcoleptic syndrome: self assessment of the action of dexamphetamine and clomipramine.

Subjective evaluation of the effect of treatment of excessive daytime sleepiness (EDS) with dexamphetamine and of cataplexy with clomipramine was made in 124 subjects with the narcoleptic syndrome. Drug effects were evaluated by self-report of the propensity to EDS and cataplexy as determined by the Epworth Sleepiness Scale and a rating scale of anticipation-associated loss of postural motor tone during long-term therapy. The effects of dexamphetamine alone (60 subjects), clomipramine alone (16 subjects) and combined dexamphetamine-clomipramine treatment (48 subjects) were evaluated.

A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.

A clinical, cytogenetic, and molecular study has been carried out on 40 adults with a firm diagnosis of Prader-Willi syndrome. A cytogenetically detectable deletion was observed in 58% while further subjects had a deletion which was detectable by molecular methods only, giving a total of 76%. Four cases of maternal uniparental disomy (UPD) were all female.

Striatal dopamine D2 receptors in patients with narcolepsy measured with PET and 11C-raclopride.

We investigated in vivo D2 receptor binding using 11C-raclopride and PET in the striatum of 17 subjects with the narcoleptic syndrome. Putamen and caudate nucleus 11C-raclopride uptake was comparable in the total patient group and controls, and the tracer uptake was similar in the HLA-DR2-positive (n = 12) and HLA-DR2-negative (n = 5) narcoleptic subjects. There was a significant increase in 11C-raclopride uptake in the putamen of narcoleptic subjects older than 31 years (n = 11) when compared with age-matched controls (n = 15).

Sleep apnoea in the Prader-Willi syndrome.

Seventeen children and young adults with the Prader-Willi syndrome were investigated. Twelve of 17 subjects had excessive daytime sleepiness as determined by their own or parental report, a high Epworth Sleepiness Scale score or a short mean sleep latency. Night sleep disturbances were reported in seven subjects with snoring, mouth-breathing, breath-holding and occasional nocturnal enuresis.

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.

A male proband is described who carries a de novo translocation between chromosomes Y and 15 associated with Prader-Willi syndrome. In situ hybridisation and molecular studies were used to show loss of the paternally derived 15q11q13 region in the translocated chromosome. Lack of further symptoms indicate that this region was lost with no apparent deletion of the Y chromosome.

The upper airway and sleep apnoea in the Prader-Willi syndrome.

Obesity, short stature, hypotonia and excessive daytime sleepiness are characteristic features of the Prader-Willi syndrome. Excessive daytime sleepiness has been attributed to obstructive sleep apnoea (OSA). To investigate the role of anatomical factors in OSA in the Prader-Willi syndrome, clinical and ENT assessment, radiology of the upper airway and polysomnography including sleep oximetry were done in 14 subjects.

Family studies in Prader-Willi syndrome.

Clinical, cytogenetic and molecular studies have been undertaken in the families of 52 probands with Prader-Willi syndrome. The maternal age at the birth of a proband with a deletion in 15p11q13 was on average 8 years less than that of the mothers of probands with uniparental disomy (UPD), the paternal age was on average 7 years less. Seven probands with UPD were all female, as were 7 patients who had neither a detectable chromosomal abnormality nor UPD.

Sleep paralysis.

Sleep paralysis is a common condition with a prevalence of 5-62%. Although most affected people have single or infrequent episodes, sleep paralysis may be recurrent, or occur in association with the narcoleptic syndrome. In a study of 22 subjects with frequent sleep paralysis and also excessive daytime sleepiness, episodes continued for between 5 and 35 years.

The delayed sleep phase syndrome: clinical and investigative findings in 14 subjects.

Fourteen subjects are described in whom a clinical diagnosis of the delayed sleep phase syndrome was made. The condition is multi-factorial, dependent on lifestyle, mood and personality, as well as on familial factors but no single factor in isolation is sufficient to explain the delay in sleep timing. Refusal to attend school may be important in some instances but will not explain cases with delayed age of onset.

Delayed sleep phase syndrome response to melatonin.

The actions of melatonin on the sleep-wake cycle were investigated by means of a randomised, double-blind, placebo-controlled trial in 8 subjects with a delayed sleep phase syndrome attending a sleep disorders clinic. In randomised order the subjects received placebo or melatonin 5 mg daily for 4 weeks with a 1 week washout period between the treatments. Drug or placebo was given at 2200 h, 5 h before the mean time of sleep onset determined by pretrial sleep logs.