Prader-Willisyndromeisararegeneticdisorderwhichcanleadtostuntedgrowthandobesityinanindividual.ReadontolearnmoreaboutPrader-Willsyndrome.Manynew-bornsfeelalittlefloppywhenheldbutasthedayspass,theirmuscletoneimproves.Ifthisdoesnotchange,andthechildseemslimporexcessivelyfloppyevenafterthefirstfewmonths,itcouldbeanindicationofararedisordercalledthePrader-Willisyndrome.Accordingtoarenownedpaediatricianthisgeneticdisorderaffectsabout1in10,000individuals.Itaffectsthefunctioningofthehypothalamuspartofthebrainwhichplaysamajorroleincontrollinghungerandthirst.Peoplewiththisdisordertendtofeelanuncontrollablehungerandtheconsequentovereatingleadstoobesity.Thehypothalamusdoesnotsecretethehormonesnecessaryfornormalgrowthandthisleadstootherproblemssuchasflabbymuscles,stuntedgrowthandlackofsexualdevelopment.InthisarticleWhatCausesPrader-WilliSyndrome?SignsandSymptomsofPrader-WilliPrader-WilliSymptomsinBabiesPrader-WilliSymptomsinChildrenDiagnosisofPrader-WilliSyndromePrader-WilliTreatmentWhatCausesPrader-WilliSyndrome?Prader-Willlisyndromeresultswhenthereissomeproblemwithchromosome15thatisinheritedfromtheparents.Everyindividualcarriesgenesinpairswithonecopycomingfromthefatherandtheotheronefromthemother.Insomeindividuals,bothcopiesofchromosome15comefromthemotherinsteadofonecopyfromeachparent.Insomeothercases,thereissomedefectinthepaternalgenesonchromosome15orthegenesareentirelymissing.Anabnormalchromosome15leadstoaproblemwithhypothalamusfunctionandthisisresponsibleforallthesymptomsassociatedwithPrader-Willisyndrome.SignsandSymptomsofPrader-WilliPrader-Willisyndromecanbeidentifiedbythepresenceofcertaintypicalsymptomsthatmanifestfromthetimeababyisbornandcontinueintoadulthood.Prader-WilliSymptomsinBabiesAninfantwiththisconditionwillhaveProblemswithsuckingthatleadstopoorgrowthInsufficientmuscletonebecauseofwhichthebabycannotbefirmlyheldTypicalfacialcharacterssuchasalmond-shapedeyesandathinupperlip;theheadappearsnarrowatthetemplesPoorresponsetostimulationandfrequenttirednessPrader-WilliSymptomsinChildrenAsthechildgrows,othersignsappearsuchasPoorphysicaldevelopmentthatleadstoashortstatureAconstantsenseofhungerthatleadstogreaterfoodconsumptionandleadstoobesityPoormotorskillsScoliosisoranabnormallycurvedspineHypogonadismorunderdevelopedsexorgansLearningdisabilitiesBehaviouralproblemssuchastempertantrumsandmentalhealthdisorderssuchasobsessivecompulsivedisorderSleepdisturbancesthatworsenduetotheobesityDiagnosisofPrader-WilliSyndromeWhenaninfanthassignificantlackofmuscletone,doctorsevaluatethepossibilityofPrader-Willisyndromebyacarefulexaminationoftheothersignsandsymptoms.Abloodtestthatteststhegeneticmakeupoftheinfantmaybeperformedtoconfirmthisdiagnosis.Prader-WilliTreatmentWhilethereisnocureforPrader-Willisyndrome,thereareseveralmeasuresthathelpdealwiththeissuesthatchildrenwiththisdisorderface.Letustakealookatsuchmeasures.RegulatedFeedingInaninfantwhohassuckingproblems,doctorsrecommendtheuseofaspecialtubeornippleforfeeding.Inanolderchildwhoisshowingrapidweightgainduetoovereating,parentshavetosuperviseandregulatetheintakeoffoodandensurethechildgetsabalanced,lowcaloriediet.Regularexerciseisalsonecessarytomaintainahealthyweightandavoidobesity.GrowthHormoneTherapyTheadministrationofGrowthHormonecanhelptoimprovephysicaldevelopmentandmobility;ithasalsobeenfoundtohelpthechildsleepbetteranddecreasebehaviouralproblems.SpecificTreatmentChildrenwithPrader-Willisyndromealsoneedappropriatetreatmenttotreatotherspecificissuessuchascurvatureofthespine,sleepdisorder,behaviouralproblemsandlearningdisability.Ifamentalhealthdisorderisalsopresent,ithastobetreatedwiththerightmedication.Correctivesurgeryortreatmentwithsexhormonescanhelpensurenormalsexualdevelopment.Prader-WilliSyndromeTipsIfyourchildhasbeendiagnosedwithPrader-Willisyndrome,itisvitaltokeepafewthingsinmind.Alwayspickandholdthechildcarefullyorheorshemayslipfromyourhandsbecauseofthepoormuscletone.Watchyourchild’sdietandkeepfoodoutofeasyreachtopreventbingeeating.Servesmallerportions,includelow-caloriefoodsandensureyourchildgetssufficientexercisetopreventobesity.Getaregularmedicalcheck-upofyourchildforearlydiagnosisofanyassociatedcomplicationsuchasacurvedspine,brittlebonesordiabetes.Hirehelpifyoufinditdifficulttomanagealone.Ensureyougetsufficientrestandspeaktosupportivepeopletohelpyourselfde-stress.ChildrenwithPrader-Willisyndromeneedspecialcarethroughouttheirlife.Whilethereisnocureforthiscondition,itispossiblewithpatientandlovingcare,tohelpsuchchildrenleadafulfillinglife.WhatarethecausesofPrader-Willsyndrome?WhicharethecommonsignsandsymptomsofPrader-Willsyndrome?HowisPrader-Willsyndrometreated?Discusshere.
Prader-Willi syndrome is a rare genetic disorder which can lead to stunted growth and obesity in an individual. Read on to learn more about Prader-Will syndrome.Many new-borns feel a little floppy when held but as the days pass, their muscle tone improves. If this does not change, and the child seems limp or excessively floppy even after the first few months, it could be an indication of a rare disorder called the Prader-Willi syndrome.
According to a renowned paediatrician this genetic disorder affects about 1 in 10,000 individuals. It affects the functioning of the hypothalamus part of the brain which plays a major role in controlling hunger and thirst. People with this disorder tend to feel an uncontrollable hunger and the consequent overeating leads to obesity. The hypothalamus does not secrete the hormones necessary for normal growth and this leads to other problems such as flabby muscles, stunted growth and lack of sexual development.
What Causes Prader-Willi Syndrome?
Prader-Willli syndrome results when there is some problem with chromosome 15 that is inherited from the parents. Every individual carries genes in pairs with one copy coming from the father and the other one from the mother. In some individuals, both copies of chromosome 15 come from the mother instead of one copy from each parent. In some other cases, there is some defect in the paternal genes on chromosome 15 or the genes are entirely missing. An abnormal chromosome 15 leads to a problem with hypothalamus function and this is responsible for all the symptoms associated with Prader-Willi syndrome.
Signs and Symptoms of Prader-Willi
Prader-Willi syndrome can be identified by the presence of certain typical symptoms that manifest from the time a baby is born and continue into adulthood.
Prader-Willi Symptoms in Babies
An infant with this condition will have
- Problems with sucking that leads to poor growth
- Insufficient muscle tone because of which the baby cannot be firmly held
- Typical facial characters such as almond-shaped eyes and a thin upper lip; the head appears narrow at the temples
- Poor response to stimulation and frequent tiredness
Prader-Willi Symptoms in Children
As the child grows, other signs appear such as
- Poor physical development that leads to a short stature
- A constant sense of hunger that leads to greater food consumption and leads to obesity
- Poor motor skills
- Scoliosis or an abnormally curved spine
- Hypogonadism or underdeveloped sex organs
- Learning disabilities
- Behavioural problems such as temper tantrums and mental health disorders such as obsessive compulsive disorder
- Sleep disturbances that worsen due to the obesity
Diagnosis of Prader-Willi Syndrome
When an infant has significant lack of muscle tone, doctors evaluate the possibility of Prader-Willi syndrome by a careful examination of the other signs and symptoms. A blood test that tests the genetic makeup of the infant may be performed to confirm this diagnosis.
Prader-Willi Treatment
While there is no cure for Prader-Willi syndrome, there are several measures that help deal with the issues that children with this disorder face. Let us take a look at such measures.
Regulated Feeding In an infant who has sucking problems, doctors recommend the use of a special tube or nipple for feeding. In an older child who is showing rapid weight gain due to overeating, parents have to supervise and regulate the intake of food and ensure the child gets a balanced, low calorie diet. Regular exercise is also necessary to maintain a healthy weight and avoid obesity.
Growth Hormone Therapy The administration of Growth Hormone can help to improve physical development and mobility; it has also been found to help the child sleep better and decrease behavioural problems.
Specific Treatment Children with Prader-Willi syndrome also need appropriate treatment to treat other specific issues such as curvature of the spine, sleep disorder, behavioural problems and learning disability. If a mental health disorder is also present, it has to be treated with the right medication. Corrective surgery or treatment with sex hormones can help ensure normal sexual development.
Prader-Willi Syndrome Tips If your child has been diagnosed with Prader-Willi syndrome, it is vital to keep a few things in mind.
- Always pick and hold the child carefully or he or she may slip from your hands because of the poor muscle tone.
- Watch your child’s diet and keep food out of easy reach to prevent binge eating. Serve smaller portions, include low-calorie foods and ensure your child gets sufficient exercise to prevent obesity.
- Get a regular medical check-up of your child for early diagnosis of any associated complication such as a curved spine, brittle bones or diabetes.
- Hire help if you find it difficult to manage alone. Ensure you get sufficient rest and speak to supportive people to help yourself de-stress.
Children with Prader-Willi syndrome need special care throughout their life. While there is no cure for this condition, it is possible with patient and loving care, to help such children lead a fulfilling life.
What are the causes of Prader-Will syndrome? Which are the common signs and symptoms of Prader-Will syndrome? How is Prader-Will syndrome treated? Discuss here.
