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At least 865 records · Page 48Linked to original sources
PubMed1987

Angelman (happy puppet) syndrome in a girl and her brother.

We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases. This report, together with a review of published reports and contact with previous authors, has revealed a total of 41 sibs of probands, although only nine of these are known to have been later born. The possible effect of voluntary restriction of family size after the birth of an affected child is discussed in relation to the possibility of autosomal recessive inheritance, but a recurrence risk of 5% is appropriate for use in the genetic clinic.

Female↗
PubMed1989

The association of Angelman's syndrome with deletions within 15q11-13.

The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%.

Ataxia↗
PubMed2005

Kinematical analysis of emotionally induced facial expressions: a novel tool to investigate hypomimia in patients suffering from depression.

OBJECTIVE: A novel technique for the kinematic analysis of emotionally induced facial expressions was applied to detect subtle mimic dysfunction in patients with depression. METHODS: Using ultrasound markers at certain points on the face, facial movements were exactly measured while subjects watched a witty sketch ("Mr Bean"). Twenty five medicated patients with depression (11 men, 14 women; mean age, 55.8 years; mean total Hamilton Depression Rating Scale score, 17.1) and 25 healthy controls, matched by sex distribution and handedness, were studied. RESULTS: Depressed patients were characterised by abnormally slow velocity at the beginning of laughing and voluntary facial movements, in addition to reduced laughing frequency. A higher severity of symptoms of depression was significantly associated with slow initial velocity of laughing movements of the left mouth angle (r = -0.45). CONCLUSION: The execution of voluntary and non-voluntary facial movements is abnormally slow in depressed patients, reflecting hypomimia. This mimic slowing is closely associated with the severity of depression. The response of depressed patients to emotional stimuli is also abnormally low, but emotional estimation of the stimuli is similar to normals. This pattern parallels the motor-emotional features known from patients with Parkinson's disease.

Adult↗
PubMed2006

Abnormal pontine activation in pathological laughing as shown by functional magnetic resonance imaging.

To explore the aetiology of pathological laughing, a 65-year-old woman with pathological laughing was examined by 3-T functional magnetic resonance imaging (fMRI) before and after treatment with drugs. Here, we report that the patient consistently showed exaggerated pontine activation during the performance of three tasks before treatment, whereas abnormal pontine activation was no longer found after successful treatment with the selective serotonin reuptake inhibitor, paroxetine. Our findings in this first fMRI study of pathological laughing suggest that serotonergic replacement decreases the aberrant activity in a circuit that involves the pons.

Affective Symptoms↗
PubMed1989

Is the syndrome of pathological laughing and crying a manifestation of pseudobulbar palsy?

A case of angiographically occult brainstem vascular malformation presenting solely with pathological laughing and crying is reported. Although this emotional syndrome has been seen in association with several different pathological entities, review of the literature failed to identify its occurrence as the only clinical expression of angiographically occult brainstem vascular malformation, or as a solitary symptom in any disease. Our data suggest that pathological laughing and crying can occur without any other manifestation of pseudobulbar palsy. An attempt is made to correlate this patient's clinical and radiological findings. This case was treated by stereotactic Bragg-peak proton beam therapy.

Adult↗
PubMed1995

Prevalence and clinical correlates of pathological affective display in Alzheimer's disease.

This study examined the prevalence and correlates of pathological affect in Alzheimer's disease. A consecutive series of 103 patients with Alzheimer's disease were examined with a comprehensive psychiatric assessment that included the pathological laughing and crying scale (PLACS). Forty patients (39%) showed pathological affect: 25% showed crying episodes, and 14% showed laughing or mixed (laughing and crying) episodes. Patients with pathological affect crying showed significantly higher depression scores and a significantly higher frequency of major depression and dysthymia than patients with no pathological affect. Patients with mixed pathological affect showed significantly more subcortical atrophy on CT than patients with pathological affect crying. Forty seven per cent of the patients with pathological affect had no congruent mood disorder, and they showed a significantly longer duration of illness and more severe anosognosia than patients with pathological affect that was congruent with an underlying mood disorder. The study validates the PLACS, and shows the high prevalence of pathological affect in Alzheimer's disease.

Affect↗
PubMed1988

Abdominal muscle activity during speech production.

Abdominal muscle activity was investigated during resting tidal breathing and speech production in upright and supine body positions in five male and five female young adult subjects. Results showed that patterns of abdominal electromyographic (EMG) activity were highly dependent on body position. Data for resting tidal breathing resembled those of previous investigations and revealed one sex-related finding. Data for speech production indicated that the lateral region of the abdomen was highly active in the upright position and occasionally active in the supine position. In the upright position, lateral EMG levels during speech production were characterized by generally higher levels in the lower than upper lateral sites and were almost always higher than during resting tidal breathing. In the supine position, EMG levels during speech production occasionally exceeded those associated with resting tidal breathing but were substantially lower than those associated with upright speech production. Abdominal EMG activity was most prevalent during loud speech production and during speech produced at low lung volumes. Findings are discussed in relation to current knowledge of respiratory mechanics and neural control.

Abdomen↗
PubMed2002

Poststroke emotional incontinence and decreased sexual activity.

BACKGROUND: Although poststroke depression has been shown to be related to decreased sexual activity (SA), the relationship between poststroke emotional incontinence (EI) and SA has not been properly investigated. METHODS: We examined 70 nondepressed, sexually active patients with first-ever stroke approximately 3 months after stroke and conducted a follow-up interview approximately 2 years after stroke in 55 of them. EI (excessive/inappropriate laughing/crying) and SA (libido, coital frequency, erectile function) were assessed with the use of a standardized questionnaire. RESULTS: Of these 70 patients, 24 (34%) had EI 3 months after stroke, which had resolved 2 years after stroke. Libido, coital frequency and erectile function were reported to have declined in 49, 65 and 26% of the patients, respectively, 3 months after stroke, and in 44, 49 and 20% of the patients 2 years after stroke. Multivariate analyses showed that low coital frequency before stroke (CFBS) was significantly (p < 0.05) related to decreased poststroke coital frequency, while the presence of EI (p < 0.05) and low CFBS (p < 0.05) was significantly associated with decreased erectile function 3 months after stroke. Two years after stroke, the presence of EI 3 months after stroke was significantly related to decreased libido, coital frequency and erectile function (p < 0.05 each). Age, gender, laterality of stroke, Barthel Index score, motor dysfunction and the presence of hypertension and diabetes mellitus were not independently related to SA 3 months and 2 years after stroke. CONCLUSION: The presence of EI is a factor related to decreased poststroke SA, more so in chronic than in subacute stages.

Acute Disease↗
PubMed2001

Surgical treatment of hypothalamic hamartoma and refractory seizures: a case report and review of the literature.

Refractory gelastic seizures are often associated with hypothalamic hamartoma (HH). Presurgical evaluation in such children often points to a distinct cortical region as the source of the seizures. A case of a child with HH and refractory seizures is presented. Video-EEG monitoring revealed a well-defined epileptic focus in the left frontal region. In accordance with the current understanding of the nature of hamartoma-related seizures, the hamartoma was resected. Follow-up evaluations revealed a marked improvement in seizure frequency and global functioning.

Child, Preschool↗