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At least 505 records · Page 28Linked to original sources
PubMed1993

Communication, cognition, and social interaction in the Angelman syndrome.

Persons with Angelman syndrome (AS) have mental retardation, epilepsy, and a characteristic "puppet-like" gait. Behaviorally, they are distinctive because they have no speech and have excessive laughter. A speech and communication evaluation of 7 persons with AS was performed to provide improved understanding of the speech deficit. Assessments included prelanguage and language development, oral motor abilities, and cognitive and social interaction skills. Results indicate that the typical lack of speech may not be due to mental retardation alone. Oral motor dyspraxia, and deficits in social interaction and attention were characteristic of AS and contributed to the lack of speech.

Adult↗
PubMed1995

Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region.

Deletions of 15q11-q13 typically result in Angelman syndrome when inherited from the mother and Prader-Willi syndrome when inherited from the father. The critical deletion region for Angelman syndrome has recently been restricted by a report of an Angelman syndrome patient with a deletion spanning less than 200 kb around the D15S113 locus. We report here on a mother and son with a deletion of chromosome 15 that includes the D15S113 locus. The son has mild to moderate mental retardation and minor anomalies, while the mother has a borderline intellectual deficit and slightly downslanting palpebral fissures. Neither patient has the seizures, excessive laughter and hand clapping, ataxia or the facial anomalies which are characteristic of Angelman syndrome. The proximal boundary of the deletion in our patients lies between the D15S10 and the D15S113 loci. Our patients do not have Angelman syndrome, despite the deletion of the D15S113 marker. This suggests that the Angelman syndrome critical deletion region is now defined as the overlap between the deletion found in the previously reported Angelman syndrome patient and the region that is intact in our patients.

Angelman Syndrome↗
PubMed1995

Clinical profile of Angelman syndrome at different ages.

We describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including the anamnestic data, the clinical and the behavioral attributes at different ages. The clinical picture of AS is most distinct between the ages of 2-16 years. Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike movements, typical stature, wide based gait) beside the mental retardation and (almost) absence of speech, which is a universal trait. The diagnosis in infants is based on only a limited number of clinical characteristics or on anamnestic data. However, if these occur in combination, they are indicative of AS. In older patients, the diagnosis may be hampered in part because of the changing behavioral characteristics and the decreasing frequency of fits. Other manifestations, such as scoliosis, may become more pronounced with age.

Adolescent↗
PubMed2003

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, speech impairment, ataxia, and happy disposition with frequent smiling. AS results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 region, due to different mechanisms: maternal deletion, paternal UPD, imprinting center mutation, and UBE3A mutation. Deletion AS patients may exhibit hypopigmentation of skin, eye, and hair correlating with deletion of P gene localized in the distal part of Prader-Willi (PWS)/AS region. Our patient presented developmental delay, severe mental retardation, absence of speech, outbursts of laughter, microcephaly, ataxia, hyperactivity, seizures, white skin, no retinal pigmentation, and gold yellow hair. His parents were of African ancestry. The SNURF-SNRPN methylation analysis confirmed AS diagnosis and microsatellite studies disclosed deletion with breakpoints in BP2 and BP3. All of the 25 exons and flanking introns of the P gene of the patient, his father, and mother were investigated. The patient is hemizygous for the deleted exon 7 of the P gene derived from his father who is a carrier of the deleted allele. Our patient manifests OCA2 associated with AS due to the loss of the maternal chromosome 15 with the normal P allele, and the paternal deletion in the P gene. As various degrees of hypopigmentation are associated with PWS and AS patients, the study of the P gene in a hemizygous state could contribute to the understanding of its effect on human pigmentation during development and to disclose the presence of modifier pigmentation gene(s) in the PWS/AS region.

Albinism, Oculocutaneous↗
PubMed2004

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of AS diagnoses in 80% of cases. Loss-of-function mutations of the UBE3A gene have been identified in approximately 8% of AS cases, failing to account for the remaining patient population, and there appears to be a higher prevalence of mutations in familial than sporadic cases. We screened UBE3A in 45 index cases of AS without obvious 15q11-13 abnormalities. Pathological mutations were identified in 3/6 (50%) familial and 4/39 (>10%) sporadic cases. By combining our data with those of the literature, we demonstrate statistically that the frequency of UBE3A mutations is significantly higher in the familial than sporadic subsets of AS. This indicates that an independent molecular mechanism or 'phenocopy' exists for the sporadic group. Rett syndrome (RS), caused by mutations of the MECP2 gene, and patients with deletions of 22q13.3 --> qter, have overlapping clinical features with AS. We screened 24 of the sporadic AS cases without detectable UBE3A mutations for mutations of MECP2, but found none. A separate cohort of 43 atypical patients with features common to AS and RS, in whom 15q11-13 lesions and 22q13.3 --> qter deletion had been ruled out, were also screened for MECP2 mutations. One male patient was mosaic for a frameshift mutation of this gene (previously reported). While MECP2 mutations can cause a phenotype reminiscent of AS in rare cases, they fail to account for the excess of sporadic patients with a definitive clinical diagnosis of AS.

Angelman Syndrome↗
PubMed2005

Behavioral aspects of Angelman syndrome: a case control study.

Angelman syndrome (AS) is a rare congenital disorder characterized by impairments in intellectual, neurological and motor functioning and a postulated behavioral profile. This study compared behavioral characteristics of 62 individuals with genetically confirmed AS and 29 individuals with presumed AS from clinical features, with a control group of young persons with intellectual disability (ID) derived from an Australian epidemiological register. Twelve behavioral items from the developmental behavior checklist (DBC) were used for this comparison. The groups were matched for chronological age, gender, and level of ID. In the AS group, significant differences were found for 10 behaviors, with poor attention span and impulsivity being less common, and overactivity/restlessness, chewing or mouthing objects, eating non-food items, gorging food, food fads, fascination for water, hand flapping and sleep disturbance being more common. Interestingly, there was no difference in prevalence of unprovoked laughter. Comparison of the results of the genetically confirmed with the genetically unconfirmed AS cases showed no significant differences between individual behavior prevalence. These findings show that a "behavioral phenotype" of AS can be distinguished from others of similar level of ID, but it is different from that hitherto published. Abnormal food related behaviors, hyperactivity, fascination for water, hand flapping, and sleep disturbance should be included in a "behavioral phenotype" for AS. Apart from hyperactivity, "ADHD-type" behaviors are not more characteristic of AS than in ID generally. Therefore, the Consensus Criteria for the diagnosis of AS need to be reviewed.

Adolescent↗
PubMed1990

Gaze-evoked involuntary movements.

Voluntary gaze may evoke a number of neurological phenomena such as vertigo, tinnitus, blepharoclonus, eyelid nystagmus, "facial nystagmus," involuntary laughter, and seizures. We report two patients in whom eccentric gaze evoked facial twitching and arm movement. Electroencephalograms remained unchanged during these movements. The pathogenesis of these movements is unclear but may involve ephaptic transmission.

Aged↗
PubMed1993

Right hemisphere facial expressivity during natural conversation.

Most studies of facial expressivity in patients with focal brain lesions have examined the ability to produce emotional expression in laboratory settings using various experimental paradigms. In this study, we compared facial expressivity in right hemisphere damaged patients (RHD), left hemisphere damaged patients (LHD), and normal controls (NHD) during videotaped semistructured interviews with the patient and spouse in their home. Three research assistants rated 120 10-sec segments of videotape per patient on a 7-point expressivity scale. We found that RHD patients showed reduced facial expressivity in comparison to both LHD and NHD subjects during spontaneous conversation. In particular, RHD patients demonstrated significantly less smiling and laughter than LHD patients and normal controls. These findings were not a general feature of communicative competence in RHD patients as discourse production equaled that of normal controls. These results support the hypothesis that the right hemisphere mediates facial expressivity during spontaneous social interaction.

Aged↗
PubMed1993

Regional cerebral blood flow in Angelman syndrome.

A patient with typical features of Angelman syndrome--a genetically inherited disorder involving developmental delay, ataxia, episodes of paroxysmal laughter and brachiocephaly--was studied with single-photon emission tomography. Hypoperfusion found in the left frontal and left temporoparietal regions can provide insights into the functional cerebral pathology, which may be due to a disturbance of the developmental process related to a chromosomal abnormality.

Angelman Syndrome↗
PubMed1996

Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography.

A receptor mapping technique using iodine-123 iomazenil and single-photon emission tomography (SPET) was employed to examine benzodiazepine receptor binding in a patient with Angelman syndrome (AS). AS is characterized by developmental delay, seizures, inappropriate laughter and ataxic movement. In this entity there is a cytogenic deletion of the proximal long arm of chromosome 15q11-q13, where the gene encoding the GABAA receptor beta3 subunit (GABRB3) is located. Since the benzodiazepine receptor is constructed as a receptor-ionophore complex that contains the GABAA receptor, it is a suitable marker for GABA-ergic synapsis. To determine whether benzodiazepine receptor density, which indirectly indicates changes in GABAA receptor density, is altered in the brain in patients with AS, we investigated a 27-year-old woman with AS using 123I-iomazenil and SPET. Receptor density was quantitatively assessed by measuring the binding potential using a simplified method. Regional cerebral blood flow was also measured with N-isopropyl-p-[123I]iodoamphetamine. We demonstrated that benzodiazepine receptor density is severely decreased in the cerebellum, and mildly decreased in the frontal and temporal cortices and basal ganglia, a result which is considered to indicate decreased GABAA receptor density in these regions. Although the deletion of GABRB3 was not observed in the present study, we indirectly demonstrated the disturbance of inhibitory neurotransmission mediated by the GABAA receptor in the investigated patient. 123I-iomazenil with SPET was useful to map benzodiazepine receptors, which indicate GABAA receptor distribution and their density.

Adult↗
PubMed1977

Anorgasmia and cataplexy.

Ten married women with cataplexy were found to be rarely orgasmic. Cataplexy is characterized by recurrent episodes of short-lived generalized muscle paralysis. It is precipitated by arousing emotional precipitants such as laughter, fear, and anger. Patients learn to avoid situations exposing them to these precipitants. It is suggested that anorgasmia is a consequence of this general tendency to avoid arousal.

Adult↗
PubMed1996

Angelman syndrome in an inbred family.

Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (approximately 65%) have a maternal deficiency within chromosomal region 15q11-q13, caused by maternal deletion or paternal uniparental disomy (UPD). Approximately 35% of AS patients exhibit neither detectable deletion nor UPD, but a subset of these patients have abnormal methylation at several loci in the 15q11-q13 region. We describe here three patients with Angelman syndrome belonging to an extended inbred family. High resolution chromosome analysis combined with DNA analysis using 14 marker loci from the 15ql1-q13 region failed to detect a deletion in any of the three patients. Paternal UPD of chromosome 15 was detected in one case, while the other two patients have abnormal methylation at D15S9, D15S63, and SNRPN. Although the three patients are distantly related, the chromosome 15q11-q13 haplotypes are different, suggesting that independent mutations gave rise to AS in this family.

Alleles↗
PubMedDate not supplied

A qualitative analysis of emotional effector patterns and their feedback.

This paper is devoted to the study of the relationship between the subjective component (feelings) and the behavioral aspect of emotions. The following emotions were studied: fear-anxiety, anger-aggression, joy-laughter, love-eroticism, love-tenderness, and sadness-tears. The observations were performed with three different groups of people: patients with anxiety neurosis, students under hypnosis, and drama students. Each emotion was characterized by a specific set of reactions in the respiratory pattern, heart activity, muscular activity, and facial expression. The feelings were correlated with the behavioral patterns and each time the behavioral patterns were interfered with a concomitant modification of the subjectivity component was observed. The direct performance of the behavioral emotional patterns in the absence of the emotogenic stimulus produced the feeling corresponding to the mimicked emotion. If the subjects were stimulated with an emotogenic stimulus during the direct performance of the behavioral patterns of another emotion, they confessed to have the feeling corresponding to the mimicked emotion, and not to the emotion belonging to the emotogenic stimulus. The role played by the feedback from the effector organs in the determination of the subjective emotional states is discussed.

Adolescent↗
PubMedDate not supplied

New surgical concepts: nasal tip function.

Since the birth of plastic surgery, rhinoplasty has been an outstanding chapter. Facial balance has been endeavoured with two parameters: size and shape. Now, however, the criterion for harmony has involved two more parameters; position and function. Position is related to other facial elements, such as, upper maxilla, upper lip, forehead, and frontonasal sulcus. Function is important because nasal superficial musculoaponeurotic system (SMAS) muscles are important for Nasal tip movement. To understand this better, we must analyze the nasal SMAS, which consists of primary or intrinsic and secondary or extrinsic muscles. When the extrinsics contract, they allow function of the intrinsics. They are the ala nasalis dilator, the ala nasalis elevator, the tranversus, and the tip depressor. Obvious hypertrophies of the dilator and the elevator has been observed in young athletes. Our method combines conventional, new, and modern aspects. It is conventional because the alar cartilages have been completely freed by intercartilaginous and marginal approaches, and the upper or lower border trimmed according to the case. It is more important to measure how much cartilage is left, than how much is removed. The new aspect is consideration of nasal SMAS to treat short noses that display a tendency to descend with laughter, and the modern aspect is the evaluation of dynamic surgical results, apart from the static.

Facial Expression↗
PubMed1998

Angelman syndrome: how many genes to remain silent?

The clinical features of Angelman syndrome (AS) include microcephaly, severe mental retardation, "puppet-like" ataxic gait with jerky arm movements, hyperactivity, bouts of inappropriate laughter, EEG abnormalities, and seizures. The frequency of occurrence of AS is in the range of 1/10,000 to 1/20,000 births. The AS locus maps to the imprinted chromosome 15q11-q13 region and the disease is caused by the absence of a normal maternal contribution to this region. The genetic complexity of AS is revealed by the existence of at least four molecular classes. A candidate AS gene, ubiquitin protein ligase 3A (UBE3A/E6-AP), has been identified, and mutations of this gene have been detected in several cases of AS. Moreover, UBE3A is expressed predominantly from the maternal allele in brain, strongly supporting its causative role in AS. However, there is evidence to suggest that, in addition to UBE3A, another gene(s) may be involved either directly in AS and/or indirectly by regulating UBE3A expression.

Alleles↗
PubMed1983

An assessment of chronic pain behavior in a structured interview.

The current study evaluated the effects of several situational contexts on the behavior of 25 chronic pain patients. Subjects participated in a 20-minute interview in which questions relevant to both pain and non-pain related experiences were asked. Another part of the interview involved a behavioral task in which the patient was asked to walk, bend and pick up a small object. Target behaviors were measured throughout the interview and included gestures of pain, grimacing, touching, smiles, laughter, changing the topic of conversation, ratings of affect, fluency and loudness, and the duration of eye contact and speech. The results showed a clear differentiation between the frequency of gestures, touching and grimacing between the pain and non-pain events. Behavior during the motor task was similar to the pain situations. Ratings of affect, fluency and loudness did not significantly differ across the situations. Slightly more eye contact and longer speech was observed during pain questions.

Adult↗
PubMed1996

Control of breathing in man; insights from the 'locked-in' syndrome.

Control of breathing was studied in a patient with a lesion in the ventral pons; no volitional behaviour, including voluntary breathing acts, was possible (locked-in syndrome, LIS). Spontaneous breathing via a tracheostomy maintained a normal PETCO2 of 39-40 mmHg. Variability of ventilatory parameters awake was similar to that seen in five tracheostomized control subjects during stage IV sleep but much smaller than during resting wakefulness. Emotion associated with laughter caused disturbances of breathing. The ventilatory response to CO2 was normal and was associated with 'hunger for air' when the PETCO2 was 49-50 mmHg. Mechanical ventilation to reduce PETCO2 by as little as 1 mmHg resulted in apnoea when the ventilator was disconnected; breathing resumed when PETCO2 crossed the threshold of 39-40 mmHg. These results demonstrate the functional dependence of the human medullary respiratory oscillator on a threshold level of PCO2 in the absence of cortico-bulbar input, even during wakefulness. The absence of such input may explain the regularity of breathing.

Adult↗
PubMed1982

Medication and reinforcement within a token programme for disturbed mentally retarded residents.

The interaction between psychotrophic medication and a token programme as treatment modalities for mentally retarded individuals with behavioural problems was investigated in two studies. In the first, involving four residents, the dependent variables were credits earned and lost each day for performing specified behaviours within the token programme. Each subject was given a major tranquillizer in alternate months over a four month period. There was a noncontingent token phase prior to, and after completion of, the experimental phases. All subjects showed an immediate increase in the level of appropriate behaviour with the introduction of the token economy, and continuing improvements thereafter. Medication did not have a significant effect on the rate of appropriate or inappropriate behaviour. The second study assessed the relative efficacy of token reinforcement and medication in controlling behaviour symptomatic of psychosis in a resident at school and during meal-times in the ward. Five behaviours recorded were swearing, inappropriate laughter, facial grimaces, fighting, and out-of-seat. Following baseline measures, the absence of facial grimaces was reinforced in the school but not in the word. The contingencies were then reversed. A major tranquillizer was then administered, together with a replication of the first two conditions. The use of tokens to control facial grimaces resulted in the concurrent suppression of the four other symptoms. There weas no remission of any symptom as a consequence of medication alone.

Activities of Daily Living↗