1/25. Genetic factors in human sleep disorders with special reference to Norrie disease, prader-willi syndrome and Moebius syndrome.Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the prader-willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/25. Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
3/25. Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family.The clinical presentation and evolution, neuropathological findings, and genotyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapidly evolving disease with insomnia and behavioural disorders as the initial symptoms and died between 5 and 10 months after the onset of the illness. Frontal brain biopsy in the mother disclosed only non-significant spongiosis, and full neuropathological examination of her offspring showed thalamic and olivary degeneration with isolated focal cortical spongiosis. Genetic examination could only be performed in the contemporary patients and both harboured the prion protein (PrP) 178Asn mutation and homozygous 129 Met/Met genotype.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/25. Otorhinolaringologic manifestation of smith-magenis syndrome.smith-magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25,000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self-mutilation and sleep disturbance. This report defines the otorhinolaryngological aspects of a new case of SMS, confirmed by cytogenetic-molecular analysis, in a 9 year old girl affected by chronic otitis media, deafness and sinusitis, who presented with typical clinical signs and symptoms.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
5/25. Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.Only few sporadic and familial cases of paroxysmal exercise-induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long-lasting PED, with childhood onset in five cases. fasting and stress were also precipitating factors. All the subjects, moreover, showed epileptic seizures during childhood and adolescence. In addition, in all cases a condition of mild mental retardation was also documented, associated in some cases, with irritable and impulsive behaviour. Clinical, neurophysiological, neuroimaging and neuropsychological findings were reported. The homogeneous recurrence of this particular clinical picture in members of three generations emphasised a common genetic basis. In our patients, PED is transmitted as an autosomal dominant trait, with age-dependent penetrance, without evidence of genetic anticipation. The neurophysiological findings suggest a condition of hyperexcitability in the muscular and brain membrane, due to a ion channels disorder.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
6/25. A profoundly mentally handicapped woman with a ring chromosome 22.A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
7/25. Sleep disturbances in the disabled child--a case report and literature review.Sleep disturbances in children are common. In children with intellectual disabilities sleeping problems are more common. This may result in increased burden of illness, additional parental stress, and day time behavioural difficulties. This article illustrates the problems that sleep disturbances create for children with disabilities and discusses methods for managing sleep problems.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
8/25. The partial monosomy 10q syndrome: report on two patients and review of the developmental data.Two patients, a boy and a girl, with growth delay, mental retardation and mild dysmorphism due to a de novo terminal 10q deletion are described. A recognizable facial appearance with a prominent nose and dysplastic ears was present. Specific attention is given to the developmental and behavioural data of the children. A review is made of the psychologic data of the 18 earlier reported surviving cases.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
9/25. smith-magenis syndrome: a new contiguous gene syndrome. Report of three new cases.Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-tooth type Ia gene has recently been localised to the 17p11.2 sub-band.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
10/25. Direct duplication 16q11.116q13 is not associated with a typical dysmorphic syndrome. In this report we present a 3-year-old girl with partial trisomy of the long arm of chromosome 16 due to a direct duplication 16q11.1 q13 (karyotype: 46, XX, dir dup(16) (pter cen q11.1 q13::q11.1 q13::q13 qter]. She presented moderate mental retardation and severe hyperkinetic behaviour. Slight dysmorphic stigmata but no internal anomalies were found.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
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