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Journal of Sleep Research Aug 2023Sleep disturbances including bedtime problems and night awakenings are common during infancy. Polysomnography during the first years of life is performed mainly to rule...
Sleep disturbances including bedtime problems and night awakenings are common during infancy. Polysomnography during the first years of life is performed mainly to rule out sleep-disordered breathing; however, sleep-related movement disorders can constitute a significant contributor to sleep disruption in this age group. Almost no studies have investigated the presence of periodic limb movements during sleep and underlying iron deficiency in infants, especially in those born preterm or with an underlying genetic syndrome. In this retrospective study we included infants 3-24 months referred for polysomnography for snoring or frequent nocturnal awakenings. All children had bloodwork (ferritin and haemoglobin) conducted within 3 months of the overnight sleep study. We studied 79 infants, including 31 (39.2%) full-term without diagnosis, 10 (12.7%) born premature, 16 (20.3%) with Down syndrome, 15 (19.0%) with Prader-Willi syndrome, and the remaining seven (8.9%) had various disorders. Compared with those with Down syndrome, Prader-Willi syndrome and full-term infants, those with prematurity showed a statistically significant elevated periodic limb movement index and lower ferritin levels than the other groups. Both ferritin (r = -0.18) and haemoglobin (r = -0.30) were negatively correlated with periodic limb movement index; however, this correlation reached statistical significance only for haemoglobin. Iron deficiency is associated with increased periodic leg movements during sleep in infants. Infants with prematurity had higher periodic limb movement index and lower ferritin levels than infants with Down syndrome, Prader-Willi syndrome or without diagnosis.
Topics: Child; Infant, Newborn; Humans; Infant; Iron; Prader-Willi Syndrome; Retrospective Studies; Down Syndrome; Leg; Sleep; Ferritins; Iron Deficiencies
PubMed: 36567415
DOI: 10.1111/jsr.13813 -
Gait & Posture Jul 2024Prader-Willi syndrome (PWS) is characterized by a complex clinical condition, whose typical features lead to impaired motor and functional skills. To date, limited data...
BACKGROUND
Prader-Willi syndrome (PWS) is characterized by a complex clinical condition, whose typical features lead to impaired motor and functional skills. To date, limited data is available as regards symmetry of gait in PWS.
RESEARCH QUESTION
The aim of this study was to characterize lower-limb asymmetry during gait in a group of Prader-Willi Syndrome (PWS) individuals by using the synchronized cyclograms and to compare it with those of two different control groups, a normal-weight group and an obese group.
METHODS
A total of 18 PWS, 30 normal weight (NW) and 28 obese individuals (OG) matched for age, sex and height were assessed via 3D gait analysis. Gait spatio-temporal parameters were computed together with angle-angle diagrams, characterized in terms of their geometric features (i.e. area, orientation, and trend symmetry index).
RESULTS
Individuals with PWS exhibit reduced speed, stride length and cadence and increased duration of both stance and double support phase than the other groups. OG was characterized by the same pattern when compared to NW. With respect to inter-limb symmetry, individuals with PWS exhibited significantly larger cyclogram areas at hip joint with respect to the other two groups (203.32 degrees vs. 130.73 degrees vs. 111.59 degrees) and significantly higher orientation angle (4.17° vs. 2.11° vs. 1.22°) and Trend Symmetry (3.72 vs. 2.02 vs. 1.21) with respect to the other two groups at knee joint; no differences were found at ankle joint. Both individuals with PWS and those of OG exhibited reduced ROM at knee and ankle joints with respect with normal weight, but no statistically significant differences were observed between PWS and OG.
SIGNIFICANCE
The obtained results may provide novel and useful insights to understand better the impairments in motor control associated with this pathological state, supporting clinics in the identification of the best rehabilitation program for this rare pathological state, aimed to improve stability and motor control.
Topics: Humans; Prader-Willi Syndrome; Female; Male; Adult; Gait; Young Adult; Adolescent; Case-Control Studies; Gait Analysis; Obesity; Biomechanical Phenomena; Lower Extremity; Hip Joint; Knee Joint; Child; Ankle Joint
PubMed: 38805861
DOI: 10.1016/j.gaitpost.2024.05.026 -
Endocrine Connections Oct 2023Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to...
Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children. Of 747 patients treated with growth hormone (GH) in our center, 95 with FSS met the inclusion criteria (pretreatment height ≤-2 SD in child and his/her shorter parent); secondary short stature and Turner/Prader-Willi syndrome were excluded criteria. Genetic etiology was known in 11/95 children before the study, remaining 84 were examined by next-generation sequencing. The results were evaluated by American College of Medical Genetics and Genomics (ACMG) guidelines. Nonparametric tests evaluated differences between monogenic and non-monogenic FSS, an ROC curve estimated quantitative cutoffs for the predictors. Monogenic FSS was confirmed in 36/95 (38%) children. Of these, 29 (81%) carried a causative genetic variant affecting the growth plate, 4 (11%) a variant affecting GH-insulin-like growth factor 1 (IGF1) axis and 3 (8%) a variant in miscellaneous genes. Lower shorter parent's height (P = 0.015) and less delayed bone age (BA) before GH treatment (P = 0.026) predicted monogenic FSS. In children with BA delayed less than 0.4 years and with shorter parent's heights ≤-2.4 SD, monogenic FSS was revealed in 13/16 (81%) cases. To conclude, in FSS children treated with GH, a monogenic etiology is frequent, and gene variants affecting the growth plate are the most common. Shorter parent's height and BA are clinical predictors of monogenic FSS.
PubMed: 37561071
DOI: 10.1530/EC-23-0238 -
European Neuropsychopharmacology : the... Jun 2024
PubMed: 38917769
DOI: 10.1016/j.euroneuro.2024.05.010 -
American Journal of Medical Genetics.... Jun 2024Guidance on indications for, and types of, feeding tubes recommended in Prader-Willi syndrome (PWS) is needed. A Global PWS Registry survey was developed to investigate...
Guidance on indications for, and types of, feeding tubes recommended in Prader-Willi syndrome (PWS) is needed. A Global PWS Registry survey was developed to investigate nasogastric (NG) and gastrostomy (G) tube use and associated complications. Of 346 participants, 242 (69.9%) had NG-tubes, 17 (4.9%) had G-tubes, and 87 (25.1%) had both NG- and G-tubes. Primary indication for placement was "feeding difficulties and/or poor weight gain" for both NG- (90.2%) and G-tubes (71.2%), while "aspiration/breathing difficulties" was the procedural indication for 6.4% of NG-tubes and 23.1% of G-tubes. NG-tubes were generally removed by age 6 months (NG Only: 82.9%; NG/G: 98.8%), while G-tubes were often removed by age 2 years (G Only: 85.7%; NG/G: 70.5%). The severe complication rate from G-tubes was 31.7% and from NG-tubes was 1.2%. Overall, caregivers indicated the presence of an NG- or G-tube had a positive effect on quality of life. Feeding difficulties in PWS are largely managed by NG-tube alone. The severe complication rate from G-tubes was about 25 times higher than from NG-tubes; yet, G-tube placement rates have generally increased. G-tube placement puts individuals with PWS at risk for anesthesia and surgery-related complications and should be considered judiciously by a multidisciplinary team.
Topics: Humans; Prader-Willi Syndrome; Registries; Female; Male; Child, Preschool; Child; Infant; Intubation, Gastrointestinal; Enteral Nutrition; Adolescent; Gastrostomy; Adult; Young Adult
PubMed: 38303141
DOI: 10.1002/ajmg.a.63546 -
International Journal of Molecular... Feb 2024Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang syndrome (SYS), and Autism spectrum disorder... (Review)
Review
Oxytocin (Oxt) regulates thermogenesis, and altered thermoregulation results in Prader-Willi syndrome (PWS), Schaaf-Yang syndrome (SYS), and Autism spectrum disorder (ASD). PWS is a genetic disorder caused by the deletion of the paternal allele of 15q11-q13, the maternal uniparental disomy of chromosome 15, or defects in the imprinting center of chromosome 15. PWS is characterized by hyperphagia, obesity, low skeletal muscle tone, and autism spectrum disorder (ASD). Oxt also increases muscle tonicity and decreases proteolysis while PWS infants are hypotonic and require assisted feeding in early infancy. This evidence inspired us to merge the results of almost 20 years of studies and formulate a new hypothesis according to which the disruption of Oxt's mechanism of thermoregulation manifests in PWS, SYS, and ASD through thermosensory abnormalities and skeletal muscle tone. This review will integrate the current literature with new updates on PWS, SYS, and ASD and the recent discoveries on Oxt's regulation of thermogenesis to advance the knowledge on these diseases.
Topics: Humans; Infant; Autism Spectrum Disorder; Body Temperature Regulation; Chromosome Disorders; Developmental Disabilities; Facies; Hypopituitarism; Imprinting Disorders; Muscle Hypotonia; Oxytocin; Prader-Willi Syndrome
PubMed: 38396741
DOI: 10.3390/ijms25042066 -
Obesity Pillars Dec 2023Increasing physical activity (PA) participation is vital to promote the development of health behaviors in childhood. This study examined which parental and familial...
BACKGROUND
Increasing physical activity (PA) participation is vital to promote the development of health behaviors in childhood. This study examined which parental and familial factors predicted completion of and compliance with a home-based family PA program in a cohort of families with a child with Prader-Willi syndrome (PWS; a rare disorder with obesity and developmental disability) or with obesity but with neurotypical development.
METHODS
Participants ( = 105) were parents of children with PWS ( = 41) and parents of children with obesity but without PWS ( = 64). Parents completed a series of questionnaires documenting their demographic characteristics, self-efficacy, social support, and family environment (active-recreational orientation and cohesion). Relationships between these factors and intervention completion and compliance were evaluated using bivariate correlations and logistic regression (compliance) and multiple regression (completion) analyses with groups together and then separately if the child group was a significant predictor.
RESULTS
None of the variables of interest (marital status, employment, employed hours per week, self-efficacy, social support, and family environment) were significant predictors of intervention completion. Intervention compliance was negatively associated with parents working part-time and working full-time and positively associated with family cohesion (Model R = 0.107, (3,100) = 4.011, = .010). Child group was not a factor.
CONCLUSIONS
Compliance with a 24-week family home-based PA intervention was related to fewer employment hours of the primary caregiver and family environment factors. Future interventions should consider how to reduce the intervention's burden in working parents along with strategies to foster family cohesion.
PubMed: 38125663
DOI: 10.1016/j.obpill.2023.100084 -
Nutrients Aug 2023Given the lack of data on dietary quality in young individuals with Prader-Willi syndrome (PWS) in Poland, a multiple case study was conducted in which anthropometric...
Given the lack of data on dietary quality in young individuals with Prader-Willi syndrome (PWS) in Poland, a multiple case study was conducted in which anthropometric measurements and 7-day dietary records were collected from 20 subjects with PWS. The study group consisted of 8 females and 12 males with a mean age of 14.8 years and a mean BMI of 21.6. Based on BMI analysis, five subjects were overweight, including two subjects who were obese. The study showed that 35% of the subjects had energy intakes above the recommended levels. Protein deficiency was found in one subject in the analyzed diets. However, fat intake was excessive in four subjects, and the majority exceeded the recommended intake of saturated fatty acids. Vitamin E and B deficiencies were found in 40% and 85% of the subjects, respectively. All subjects had inadequate intakes of vitamin D and iodine, while the majority had deficiencies in sodium and copper intakes. Calcium intake was deficient in 35% of the subjects. However, most subjects met recommendations for the intakes of other minerals, vitamins, and fiber. These findings confirm the suboptimal dietary patterns of Polish individuals with PWS, with deficits observed in the intake of certain vitamins and minerals.
Topics: Female; Male; Adolescent; Child; Young Adult; Humans; Poland; Prader-Willi Syndrome; Diet; Nutritional Status; Vitamins; Vitamin A; Vitamin K
PubMed: 37686843
DOI: 10.3390/nu15173811 -
Case Reports in Genetics 2023Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader-Willi Syndrome (PWS). The PWS...
Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader-Willi Syndrome (PWS). The PWS critical region contains four paternally expressed protein-coding genes along with small nucleolar RNA (snoRNA) genes under the control of the promoter, including the snoRNA gene cluster that is implicated in the PWS disease etiology. A 5-7 Mb deletion, maternal uniparental disomy, or an imprinting defect of chromosome 15q affect multiple genes in the PWS critical region, causing PWS. However, the individual contributions of these genes to the PWS phenotype remain elusive. Reports of smaller, atypical deletions may refine the boundaries of the PWS critical region or suggest additional disease-causing mechanisms. We describe an adult female with a classic PWS phenotype due to a 78 kb microdeletion that includes only exons 2 and 3 of with apparently preserved expression of .
PubMed: 37736297
DOI: 10.1155/2023/4225092 -
Pediatrics Sep 2023Prader-Willi syndrome (PWS) is a genetic hormonal disorder of the hypothalamic-pituitary-axis resulting in mental retardation, muscle hypotonia, hypogonadism, and...
Prader-Willi syndrome (PWS) is a genetic hormonal disorder of the hypothalamic-pituitary-axis resulting in mental retardation, muscle hypotonia, hypogonadism, and hyperphagia leading to significant obesity. Cardiovascular morbidity and mortality in adult patients with PWS is higher than in healthy controls and mainly secondary to massive obesity. In childhood, mortality may result from respiratory or gastrointestinal illnesses. We present a case of a 10-year-old boy with PWS who experienced recurrent and asymptomatic episodes of sinus pauses caused by the ingestion of large gulps of apple juice, which could be provoked and reproduced. The asystoles could not be provoked by any other vagal maneuvers and an initial diagnostic workup revealed no indication for structural heart disease. Because of the asymptomatic character of the asystoles, no treatment was initially provided. When he re-presented 3 months later after a clinically relevant syncope at school, pacemaker therapy was initiated, and he has demonstrated no subsequent sinus pauses or syncopes. Regarding the rising awareness of subtle cardiac alterations including autonomic dysfunction and electrocardiogram changes in young patients with PWS and especially the occurrence of unexplained sudden deaths in childhood that may be precipitated by arrhythmia, we suggest that the utility of periodic screening for arrhythmia risk should be evaluated in children with PWS.
Topics: Child; Male; Adult; Humans; Prader-Willi Syndrome; Obesity; Heart Arrest; Intellectual Disability
PubMed: 37539482
DOI: 10.1542/peds.2022-058216