摘要:

AbstractKey manifestations helpful in diagnosing Rett syndrome include progressive loss of previously acquired psychomotor skills, apraxia with loss of use of hands and legs, and “hand‐washing” automatisms. Four types of clinical presentation can be described: a neurodegenerative disorder, an autistic syndrome, a Lennox‐Gastaut syndrome, and a chronic encephalopathy. Carbamazepine currently appears to be the anti‐convulsant of choice. The mild lactic and pyruvic acidosis along with the ultrastructural abnormalities of mitochondria in brain and liver biopsies point to a generalized disorder of energy m

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250512

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250513

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractRett syndrome and infantile autism share the common symptom of autism, especially in the early stages of the disorders. In the later development of Rett syndrome autism sometimes becomes less prominent and there may also be clear differences as regards the quality of autistic behaviour in Rett syndrome and infantile autism. However, in infancy, the syndromes may be indistinguishable. The present paper deals briefly with this issue and suggests that in many girls referred in infancy for autistic symptoms Rett syndrome should be considered seriously as a primary diagnostic alternative.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250514

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractThis paper confirms Nomura's finding (Nomura et al, 1984) that almost all of those children with Rett syndrome under 7 who grasp objects are lefthanded. It is suggested that the lefthandedness in Rett syndrome up to age 7 comes from a functional lateralization of the cerebral hemispheres similar to that which Birkmayer and Rett proposed for normal infants up to age 1 (Birkmayer and Rett, 1954). However, examination of children over 7 showed that almost all of those patients who grasp objects prefer the right hand and show symptoms of disturbance of the functions of the pyramidal tract that are more pronounced in the left than in the right upper limb. It is suggested that in connection with the severe developmental retardation of the CNS in Rett syndrome the right shift factor of handedness (Annett, 1981) has a belated manifestation. Within the framework of a regression of the CNS there occurs a regression which is more pronounced in the right cerebral hemisphere than in the left.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250515

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractSome of the peculiar symptoms of Rett syndrome including stereotypic wringing and washing hand movements, staring, social withdrawal, bouts of hyperpnea, are interpreted as the expression of motivational conflicts occurring in severely brain damaged patients unable to perform useful hand movements. These behaviours can be considerably reduced, if external ‘requests’ are substantially diminished and sources of keen interest (stories, music, face to face interactions) are activated. These preliminary observations were derived from 34 patients seen by the aut

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250516

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractBecause of the consistent and prominent language failure in Rett syndrome, a patient with the characteristic phenotype was tested for subtle auditory processing deficits by visual reinforcement audiometry. In spite of excellent detection threshold and frequency discrimination, frequency sweep discrimination was at a chance level. This discrimination is normally performed by 5–8 month old infants. This observation suggests a defect in the specialized units of the inferior colliculus or higher auditory centers which subserve frequency sweep discriminatio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250517

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractTwo children with Rett syndrome were treated for their self‐injurious hand biting. Results of an operant assessment showed that in both cases the behavior functioned as a self‐stimulatory response. Differential reinforcement, combined with a response interruption technique, produced large reductions in the hand biting of both girls and increases in the motor performance (instruction following, toy play) of one girl. These results suggest that further operant investigations may be helpful in the understanding and management of the behavioral symptoms found in Rett syndr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250518

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractFour patients with Rett syndrome had prominent abnormalities of breathing during active wakefulness, characterized by prolonged apnea intermixed with irregular and frequent respiratory movements. The apneic periods were associated with severe drops in O2saturation, which assumed a periodic pattern. Respiration was regular during sleep and quiet wakefulness.These respiratory patterns seem characteristic of Rett syndrome and are probably related to impairment of the behavioral control system of respiration. These severe hypoxic episodes could contribute to permanent neurologic damage and secondary neurochemical changes.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250519

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractWe report on a 17‐year‐old girl considered to represent a “forme fruste” of Rett syndrome. The history showed normal psychomotor development until age 20 months, when the girl successively lost acquired speech and developed autistic traits, moderate dementia, partial apraxia and microcephaly. However, she never stopped using her hands purposefully, nor did she develop the hand stereotypies characteristic of Rett syndrome. From age 4 years she successively became more communicable and regained some of the previous abilities including some speech. At 17 she showed most of the abnormalities characteristic of adolescent girls with Rett syndrome but was still only moderately retarded, with remarkably preserved motor functions. She had a peculiar apraxia. She seemed to lack “the key” to using her hands, while retaining a pincer grasp and some manipulative skills in her fingers. ‐ It is suggested that the phenotype of Rett syndrome can vary considerably and that “formes frustes” may not be an exceptional rarity among mental

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250520

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractIn the absence of any biological marker, Rett syndrome (RS) is defined by clinical criteria which have been proposed at the second Vienna conference on RS and patients who do not fulfill those criteria cannot be included. However, some patients partially fulfill the criteria but lack some of the essential characteristics. Seven such patients are reported. All patients were girls. Atypical manifestations included absence of a normal development during the first months of life (5 patients), absence of deterioration (1 patient), or presence of initial and intense seizure activity (2 patients).If such cases are indeed atypical RS, the spectrum of clinical manifestations will have to be broadened and deterioration of previously acquired skills may not be an essential requirement for its diagnosis.The exclusive occurrence of atypical and of typical cases in females suggests that both constitute a single morbid entity.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250521

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY