It is also known as HAPPY PUPPET SYNDROME and it is a genetic disorder that affects your nervous system. It can be misdiagnosed as palsy or autism, so the correct diagnosis and differentiation should be done. It causes severe physical and intellectual disability.

CAUSES:

The cause is due to genetic mutation and due to lack of function of part of chromosome 15 inherited from a patient’s mother. It is due to the deletion or mutation of the UBE3A gene on the chromosome due to inherited two copies of chromosome 15 from the patient’s father and none from their mother because of genomic imprinting. It can also be caused due to chromosome translocation in the UBE3A gene. Loss of the OCA2 gene is also linked to one of the causes.

SYMPTOMS:

• Delayed development at 6-12 months like unable to sit without support and babbling noise.
• Not able to speak completely or just partially a few words being spoken using hand gestures or signs.
• Ataxia
• Stiffer legs during a walk
• Laughing and smiling often
• Hyperexcitability showed by flapping the hands.
• Restless
• Short attention span
• Sleeping problems
• Affinity with water
• Sticking their tongue out
• Scoliosis
• Pale skin, light eyes
• Mouth widely open
• Crossed eyes
• Seizure

DIAGNOSIS:

• Symptoms asked by the doctor
• Blood test
• Fluorescence in situ hybridization
• Chromosome analysis
• DNA methylation
• Gene mutation analysis

TREATMENT:

• ANTICONVULSANT MEDICATIONS: to treat multiple seizures associated with it.
• Melatonin is given to promote and affect sleeping patterns.
• Laxatives are given to correct bowel movements.
• PHYSIOTHERAPY: is done to encourage joint mobility and prevent stiffening of the joints.
• SPEECH AND LANGUAGE THERAPY: is employed to assist individuals with their communication issues.