The presentation of Prader-Willi syndrome depends upon the age of the patient.
In fetal life:
In neonates and children:
Diagnosis is established with the help of the following investigations.
There is no cure for Prader-Willi syndrome as it is a gene defect. The treatment is done for the management of acute symptoms of the disease . It consists of the following.
The condition is associated with development of secondary disorders like diabetes mellitus which can lead to comorbidities. Gastric and respiratory problems may lead to death. The overall prognosis is poor.
The syndrome arises due to deletion of genes on the chromosome 15 in the region 15q11-13 along with gene imprinting in maternal chromosomes . Mutations or translocation of the genes may also give rise to Prader-Willi syndrome.
Prader-Willi syndrome occurs in about 1 in 10,000 to 1 in 25,000 newborns. The occurrence of this disease is sporadic. It affects male and females equally. No gender, racial or ethnic predisposition has been found.
The syndrome is not heritable as this is an acquired anomaly of the embryonic life. However, rare genetic changes in Prader-Willi syndrome can be passed on. Recurrence of the syndrome in siblings is uncommon.
Deletion of genes on the chromosome 15 in the region 15q11-13 leads to this abnormality. The underlying gene defect can occur by any of the three pathways:
These genes usually code for certain small nucleolar RNAs (snoRNAs) which have regulatory as well as other functions.
Loss of SNORD116 gene cluster and OCA2 genes is common in Prader-Willi syndrome. This leads to hypopigmentation of skin and hair that is associated with the disorder.
Hypothalamic dysfunction underlies most of the symptoms of Prader-Willi syndrome, leading to disturbances of sleep-wake cycles, sexual characteristics, hunger and satiety, pain and temperature sensations.
The following measures should be adopted in order to minimize the morbidity from Prader-Willi syndrome.
Prader-Willi syndrome (PWS), also known as Prader-Labhart-Willi syndrome, is a rare genetic disorder that arises due to genetic abnormalities. It is a multiphasic disorder that can lead to obesity in children.
Delayed onset of development is commonly observed in the cases of PWS. Behavioral and cognitive problems are also common in such children along with some degree of intellectual deficit.
Prader-Willi syndrome (PWS) develops as a result of genetic abnormalities due which the child suffers from late speech development, decrease muscle power, insatiable hunger and overeating bouts, obesity, excessive sleeping, weakness and mental retardation. Short stature and short hands and feet are typical of PWS. Growth retardation is common and such children fail to thrive. Puberty is delayed in patients of Prader-Willi syndrome and infertility is common.
Testing should be done to check for gene abnormalities before birth so that appropriate measures can be taken beforehand. The disease is rarely passed onto the next generation and is compatible with life but a lot of abnormalities develop in such patients. Presence of Prader-Willi syndrome in one child does not mean that further pregnancies will result in recurrence of the syndrome.