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Research Notes: PWS Abstracts - 2001[ 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1980-1989 | 1979 and prior ] Endocr Rev. 2001 Dec. Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000-16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals. Hum Mol Genet. 2001 Nov 1. The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the coordinated control of an imprinting center (IC) at the 5' end of the SNURF-SNRPN gene. One gene cluster spans the centromeric part of this domain and contains several genes that are transcribed from the paternal chromosome only (MKRN3, MAGEL2, NDN, SNURF-SNRPN, HBII-13, HBII-85 and HBII-52). Apart from the HBII small nucleolar RNA (snoRNA) genes, each of these genes is associated with a 5' differentially methylated region (DMR). The second gene cluster maps to the telomeric part of the imprinted domain and contains two genes (UBE3A and ATP10C), which in some tissues are preferentially expressed from the maternal chromosome. So far, no DMR has been identified at these loci. Instead, maternal-only expression of UBE3A may be regulated indirectly through a paternally expressed antisense transcript. We report here that a processed antisense transcript of UBE3A starts at the IC. The SNURF-SNRPN sense/UBE3A antisense transcription unit spans more than 460 kb and contains at least 148 exons, including the previously identified IPW exons. It serves as the host for the previously identified HBII-13, HBII-85 and HBII-52 snoRNAs as well as for four additional snoRNAs (HBII-436, HBII-437, HBII-438A and HBII-438B), newly identified in this study. Almost all of those snoRNAs are encoded within introns of this large transcript. Northern blot analysis indicates that most if not all of these snoRNAs are indeed expressed by processing from these introns. As we have not obtained any evidence for other genes in this region, which, from the mouse data appears to be critical for the neonatal Prader-Willi syndrome phenotype, a lack of these snoRNAs may be causally involved in this disease. Am J Med Genet. 2001 Oct 15. Bone density, anthropometric data, and markers of bone turnover were collected on 21 subjects diagnosed with Prader-Willi syndrome (PWS) and compared with 9 subjects with obesity of unknown cause. In addition, urinary N-telopeptide levels were obtained in all subjects. N-telopeptides are the peptide fragments of type I collagen, the major bone matrix material. During periods of active bone degradation or high bone turnover, high levels of N-telopeptides are excreted in the urine. However, no significant difference was detected in the urinary N-telopeptide levels when corrected for creatinine excretion (raw or transformed data) between our subjects with obesity or PWS and the observed effect size of the between-group difference was small. Although N-telopeptide levels were higher but not significantly different in the subjects with PWS compared with obese controls, the subjects with PWS had significantly decreased total bone and spine mineral density and total bone mineral content (all P < 0.001). No differences in N-telopeptide levels or bone mineral density were observed between subjects with PWS and chromosome 15q deletion or maternal disomy. Thus, decreased bone mineral density in subjects with PWS may relate to the lack of depositing bone mineral during growth when bones are becoming more dense (e.g., during adolescence), possibly because of decreased production of sex or growth hormones and/or long-standing hypotonia. It may not be caused by loss, or active degradation, of bone matrix measurable by the methods described in this study further supporting the possible need for hormone therapy during adolescence. Jpn J Ophthalmol. 2001 Sep-Oct. BACKGROUND: The association of oblique palpebral fissures and A- or V-pattern has not been clarified. We report two cases of A-pattern esotropia with marked mongoloid slanting palpebral fissures associated with vertical displacement of the horizontal rectus muscle. CASES: Case 1 was a boy with Prader-Willi syndrome. He showed A-pattern esotropia with upward slanting palpebral fissures. Severe superior oblique muscle overaction was observed. Case 2 was a girl with meningocele. She also showed A-pattern esotropia with upward slanting palpebral fissures. OBSERVATIONS: In case 1, weakening surgery of the superior oblique muscles did not improve the A-pattern. Coronal images of computed tomography showed one-half-muscle-width upward displacement of both lateral rectus muscles. After downward transposition surgery of the lateral rectus muscles, the preoperative A-pattern of 25 prism diopters (PD) was successfully corrected to 10 PD. In case 2 also, upward displacement of both lateral rectus muscles was shown by computed tomography. The preoperative A-pattern of 26 PD was corrected to 4 PD postoperatively after upward transposition surgery of the medial rectus muscles. CONCLUSIONS: The vertical displacement of horizontal rectus muscles was considered the principal cause of A-pattern in these cases associated with marked mongoloid slanting palpebral fissures. Rev Esp Anestesiol Reanim. 2001 Aug-Sep. No abstract available. Paediatr Anaesth. 2001 Jul. We report the anaesthetic management of a child with Prader-Willi syndrome and mitochondrial myopathy for open heart surgery. We used ketamine, fentanyl, rocuronium and caudal morphine together with a propofol infusion with no untoward effects. The implications of both conditions for anaesthesia are discussed. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2001 Jul. Four cases of congenital dysfunction of the major salivary glands as well as of Prader-Willi, congenital rubella, and Sjogren's syndromes were identified in a series of 500 patients referred for excessive tooth wear. Although there was evidence of consumption of highly acidic drinks, some occlusal parafunction, and unacceptable toothbrushing habits, salivary dysfunction was the salient factor predisposing a patient to tooth wear in these syndromal cases. The 500 subjects have been characterized either as having medical conditions and medications that predispose them to xerostomia or lifestyles in which workplace- and sports-related dehydration lead to reduced salivary flow. Normal salivation, by buffering capacity, clearance by swallowing, pellicle formation, and capacity for remineralization of demineralized enamel, protects the teeth from extrinsic and intrinsic acids that initiate dental erosion. Thus, the syndromes, unrelated in many respects, underline the importance of normal salivation in the protection of teeth against tooth wear by erosion, attrition, and abrasion. J Voice. 2001 Jun. Prader-Willi syndrome (PWS) is a multisystem disorder caused by DNA abnormalities involving chromosome 15. Major characteristics are infant hypotonia, hypogonadism, mental retardation, a short stature, atypical facial appearance, and the onset of obesity due to insatiable hunger in early childhood. Also, speech and language abnormalities have been reported including voice disorders. These have seldom been studied in detail, however. This paper reports the results of an acoustic and aerodynamic investigation of the voice in 22 individuals with PWS. Two age groups were distinguished, a group of children [chronological age (CA) 6 years, 7 months through 11 years, 7 months; total intelligence quotient (TIQ) 40-88] and a group of adolescents and adults (CA 17 years, 1 month through 29 years, 5 months; TIQ 41-94). Both aerodynamic and acoustic parameters were obtained and compared with normative data from the Belgian Study Group on Voice Disorders. It was found that voice difficulties do commonly occur in individuals with PWS including impairment of frequency levels, voice quality, and poor aerodynamic capabilities. Clin Neurophysiol. 2001 May. Objective: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWS in order to clarify the nature of their hypersomnia. Design and methods: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. Results: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. Conclusions: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation. Rev Esp Anestesiol Reanim. 2001 Apr. No abstract available. Indian J Chest Dis Allied Sci. 2001 Jan-Mar. We report a case of a 3-year-old child with Prader-Willi syndrome who had severe sleep disordered breathing with daytime hypersomnolence. His daytime blood gases showed type II respiratory failure. He was effectively treated with continuous positive airway pressure (CPAP) and has used this form of therapy for 2 years now with improvement in daytime somnolence, improved mental acuity and normalisation of daytime blood gases. Am J Ment Retard. 2001 Jan. Many adults with Prader-Willi syndrome are affected by behaviors such as tantrums, skin-picking, and compulsions. The nature and extent of these problems suggest more attention be directed to their emergence in childhood. Our purpose was to investigate behavior problems in children with this syndrome and identify the age at which these behaviors emerge. Parents of children with Prader-Willi syndrome, Down syndrome, and those developing typically completed questionnaires. Children with Prader-Willi syndrome exhibited more compulsions, skin-picking, and tantrums than did the other groups. A discriminant analysis of behavior variables derived two statistically significant functions that were interpreted as developmental milestones and problematic behavior. These functions correctly predicted membership for 79% of grouped cases. Eur J Pediatr. 2001 Jan. Premature adrenarche/pubarche in male patients with Prader-Labhart-Willi syndrome may be associated with increased growth velocity and bone age acceleration. 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