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Current Neuropharmacology 2023The effects of probiotics have mostly been shown to be favorable on measures of anxiety and stress. More recent experiments indicate single- and multi-strain probiotics... (Review)
Review
The effects of probiotics have mostly been shown to be favorable on measures of anxiety and stress. More recent experiments indicate single- and multi-strain probiotics in treating motorrelated diseases. Initial studies in patients with Parkinson's disease and Prader-Willi syndrome are concordant with this hypothesis. In addition, probiotics improved motor coordination in normal animals and models of Parkinson's disease, multiple sclerosis, and spinal cord injury as well as grip strength in hepatic encephalopathy. Further studies should delineate the most optimal bacterial profile under each condition.
Topics: Animals; Humans; Parkinson Disease; Motor Skills; Probiotics
PubMed: 37550907
DOI: 10.2174/1570159X21666230807150523 -
Nature and Science of Sleep 2022Children with Prader-Willi syndrome (PWS) face a multitude of potential health challenges including life-threatening obesity, endocrinopathies, behavioral and emotional... (Review)
Review
Children with Prader-Willi syndrome (PWS) face a multitude of potential health challenges including life-threatening obesity, endocrinopathies, behavioral and emotional dysregulation, developmental delays, and sleep disorders. In the current perspective piece, we provide a focused review of the condition's etiology and clinical findings, as well as a more in-depth discussion of sleep disorders frequently associated with PWS. In particular, we highlight and discuss difficult clinical scenarios frequently encountered by the pediatric sleep physician caring for this patient population, including diagnosis and treatment of complex sleep-related breathing disorders, considerations for sleep apnea surgery, the interplay between growth hormone and sleep apnea, diagnostic challenges in hypersomnia/narcolepsy, and current and emerging therapies for hypersomnia/narcolepsy. Overall, although there are many areas that need further research, sleep disorders remain a fruitful target for improving quality of life of children with PWS and their families.
PubMed: 36394064
DOI: 10.2147/NSS.S361518 -
Journal of Clinical Medicine Jan 2022Prader-Willi syndrome (PWS) is a rare genetic syndrome with a wide spectrum of clinical features in early life. Late diagnoses are still present. We characterized the...
OBJECTIVE
Prader-Willi syndrome (PWS) is a rare genetic syndrome with a wide spectrum of clinical features in early life. Late diagnoses are still present. We characterized the perinatal and neonatal features of PWS, compared them with those of healthy newborns and assessed the prenatal and neonatal differences between the genetic subtypes.
DESIGN
A cohort study in children with PWS. The prevalence of variables was compared with healthy infants (PLUTO cohort) and to population statistics from literature.
PATIENTS
244 infants with PWS and 365 healthy infants.
MEASUREMENTS
Data on prenatal and neonatal variables in both cohorts. Population statistics were collected through an extensive literature search.
RESULTS
A higher prevalence of maternal age >35 years was found in PWS compared to healthy infants and population statistics, and the highest maternal age was found in the mUPD group. Higher prevalence of polyhydramnios, caesarean section, labour induction and breech presentation, and lower birth weight SDS was found in PWS compared to healthy infants. High prevalences of decreased fetal movements (78.5%), hypotonia (100%), cryptorchism (95.9%) and poor sucking/tube feeding (93.9%) were found in PWS.
CONCLUSIONS
This study presents an overview of prenatal and neonatal variables in infants with PWS compared to healthy infants. Our findings may increase clinical awareness of the early perinatal signs of PWS by obstetricians, neonatologists and all those involved in infant care, enabling early diagnosis and start of multidisciplinary treatment.
PubMed: 35160130
DOI: 10.3390/jcm11030679 -
International Journal of Molecular... Feb 2021Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder related to the lack of a functional paternal copy of chromosome 15q11-q13. Several clinical... (Review)
Review
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder related to the lack of a functional paternal copy of chromosome 15q11-q13. Several clinical manifestations are reported, such as short stature, cognitive and behavioral disability, temperature instability, hypotonia, hypersomnia, hyperphagia, and multiple endocrine abnormalities, including growth hormone deficiency and hypogonadism. The hypogonadism in PWS is due to central and peripheral mechanisms involving the hypothalamus-pituitary-gonadal axis. The early diagnosis and management of hypogonadism in PWS are both important for physicians in order to reach a better quality of life for these patients. The aim of this study is to summarize and investigate causes and possible therapies for hypogonadism in PWS. Additional studies are further needed to clarify the role of different genes related to hypogonadism and to establish a common and evidence-based therapy.
Topics: Chromosome Aberrations; Hormones; Humans; Hypogonadism; Prader-Willi Syndrome
PubMed: 33671467
DOI: 10.3390/ijms22041993 -
Frontiers in Genetics 2021
PubMed: 34539761
DOI: 10.3389/fgene.2021.755076 -
Journal of Clinical Medicine Oct 2022Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated...
BACKGROUND
Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader-Willi-like, Silver-Russell-like or as a Silver-Russell spectrum disorder.
METHODS
This study describes 15 patients with TS14 who visited the Dutch Reference Center for Prader-Willi-like from December 2018 to January 2022.
RESULTS
Eight patients had UPD(14)mat and seven a methylation defect. The most common symptoms were intra-uterine growth retardation (IUGR) (100%), hypotonia (100%), precocious puberty (89%), small for gestational age (SGA) birth (67%), tube feeding after birth (53%) and psycho-behavioral problems (53%). Median (interquartile range (IQR)) IQ was 91.5 (84.25; 100.0), whilst many patients were enrolled in special education (54%). The median (IQR) fat mass % (FM%) SDS was 2.53 (2.26; 2.90) and lean body mass (LBM) SDS -2.03 (-3.22; -1.28). There were no significant differences in clinical characteristics between patients with a UPD(14)mat and a methylation defect.
CONCLUSIONS
Our patients share a distinct phenotype consisting of IUGR, SGA birth, precocious puberty, hypotonia, tube feeding after birth, psycho-behavioral problems and abnormal body composition with a high FM% and low LBM. Whilst similarities with Prader-Willi syndrome (PWS) and Silver-Russell syndrome (SRS) exist, TS14 is a discernible syndrome, deserving a tailored clinical approach. Testing for TS14 should be considered in patients with a PWS or SRS phenotype in infancy if PWS/SRS testing is negative.
PubMed: 36362517
DOI: 10.3390/jcm11216289 -
Journal of Clinical Medicine May 2021There are no studies about insight or awareness of illness in patients with Prader-Willi Syndrome (PWS). The objective of this study was to explore the level of...
There are no studies about insight or awareness of illness in patients with Prader-Willi Syndrome (PWS). The objective of this study was to explore the level of awareness of the disorder, of the need for medication, and of the social consequences of the disease, as well as of its main symptoms in PWS. We also aimed to explore relationships between awareness and sociodemographic and clinical characteristics, and to compare all data with a matched sample of patients with psychosis. Insight was assessed by an Adapted version of the Scale of Unawareness of Mental Disorder in a cross-sectional pilot study at a University Hospital. Thirty-six individuals with PWS (58.3% women) were included. Results showed that PWS patients had a good awareness of the illness and of the effects of medication, in contrast to a lack of awareness of illness' social consequences. Awareness of obesity/overweight was excellent, as was the awareness of excessive appetite. Awareness of excessive food intake was only mild. Insight correlated with age and functionality, but not with BMI. PWS patients showed a better insight into the illness but a similar awareness of the effects of the medication and of the social consequences of the disease as compared to schizophrenia-spectrum patients. This profile of insight may have relevant clinical implications.
PubMed: 34067179
DOI: 10.3390/jcm10092007 -
Scientific Reports Jul 2023Prader-Willi syndrome (PWS), which is a complex epigenetic disorder caused by the deficiency of paternally expressed genes in chromosome 15q11-q13, is associated with...
Prader-Willi syndrome (PWS), which is a complex epigenetic disorder caused by the deficiency of paternally expressed genes in chromosome 15q11-q13, is associated with several psychiatric dimensions, including autism spectrum disorder. We have previously reported that iPS cells derived from PWS patients exhibited aberrant differentiation and transcriptomic dysregulation in differentiated neural stem cells (NSCs) and neurons. Here, we identified SLITRK1 as a downregulated gene in NSCs differentiated from PWS patient iPS cells by RNA sequencing analysis. Because SLITRK1 is involved in synaptogenesis, we focused on the synaptic formation and function of neurons differentiated from PWS patient iPS cells and NDN or MAGEL2 single gene defect mutant iPS cells. Although βIII tubulin expression levels in all the neurons were comparable to the level of differentiation in the control, pre- and postsynaptic markers were significantly lower in PWS and mutant neurons than in control neurons. PSD-95 puncta along βIII tubulin neurites were also decreased. Membrane potential responses were measured while exposed to high K stimulation. The neuronal excitabilities in PWS and mutant neurons showed significantly lower intensity than that of control neurons. These functional defects in PWS neurons may reflect phenotypes of neurodevelopmental disorders in PWS.
Topics: Humans; Prader-Willi Syndrome; Autism Spectrum Disorder; Tubulin; Neurons; Neural Stem Cells; Chromosomes, Human, Pair 15; Proteins
PubMed: 37491450
DOI: 10.1038/s41598-023-39065-x -
BMC Pediatrics Aug 2023Prader-Willi syndrome (PWS) is a genetic disorder involving multiple systems, with an incidence of about 1/10000-25000. Ovarian torsion (OT) is not commonly found in...
BACKGROUND
Prader-Willi syndrome (PWS) is a genetic disorder involving multiple systems, with an incidence of about 1/10000-25000. Ovarian torsion (OT) is not commonly found in children. Ovarian cyst acts as one of the primary factors resulting in OT. While ovarian cyst torsion with Prader-Willi Syndrome has not been reported before.
CASE PRESENTATION
A 12-years old female was admitted to Emergency Department of our hospital with the chief complaint of abdominal pain. The outcomes of physical examination revealed the height of 150 cm, weight of 103 kg, BMI of 45.77 kg/m. The patient manifested the special facial features, an obese body, with the abdomen distended into a spherical shape. The fat accumulation in the abdomen significantly embarrassed the palpation. The abdominal CT scan indicated a huge cystic mass in the abdominal cavity, sized about 138 mm × 118 mm. According to medical history, the patient was born with low crying and hypotonia, who has developed the uncontrollable eating behavior since 3-years old. These abnormalities led to a speculation of PWS syndrome, so a genetic test was performed and finally confirmed it, concluding a torsion of ovarian cyst with PWS. With the multidisciplinary consultation, a careful treatment strategy containing the control of blood pressure and blood sugar, coenzyme Q10 was administrated to nourish the myocardium and the application of Growth Hormone was developed. All the above preoperative treatments have brought great benefits to patients. Thus promising the successful completion of operation. The postoperative follow-up till now indicated that the abdominal incision was well healed, without operative complications.
CONCLUSIONS
This may be the first case report. In the treatment of ovarian cyst torsion, PWS syndrome requires fully consideration, as the latter can lead to multisystem abnormalities, especially the relation to perioperative management, and even fatalities. Genetic testing should be conducted early when PWS was suspected, accompanied with adequate preparation for the perioperative period, the follow-ups of patients should be maintained for a long time after surgery.
Topics: Humans; Female; Child; Ovarian Cysts; Prader-Willi Syndrome; Abdominal Pain; Muscle Hypotonia; Obesity; Human Growth Hormone
PubMed: 37553631
DOI: 10.1186/s12887-023-04223-7 -
Behavior Analysis in Practice Jun 2022Prader-Willi syndrome (PWS) is a rare genetic disorder typically characterized by hyperphagia, hypotonia, intellectual disabilities, insistence on routines, and... (Review)
Review
Prader-Willi syndrome (PWS) is a rare genetic disorder typically characterized by hyperphagia, hypotonia, intellectual disabilities, insistence on routines, and obsession and compulsion related to food. Although current medical interventions primarily include growth hormones to address the biological symptoms of the individual, behavioral therapy is an alternative option for skill acquisition and decreasing problem behaviors. There is a growing need for applied behavior analysis (ABA) research on targeting problem behaviors and teaching requisite skills to individuals with this syndrome. This article reviews the current literature on PWS, highlights treatments and their limitations, suggests how ABA providers can provide ethical services, and proposes future research needs with this syndrome.
PubMed: 35692531
DOI: 10.1007/s40617-021-00618-z