Happy Puppet Syndrome

What is happy puppet syndrome?

This is a genetic disorder, which causes severe learning difficulties along with walking and talking trouble but affected child never stop to smile. The disorder is termed as happy puppet syndrome because it puts a permanent smile on the face. Alternatively, this disorder is also known as Angelman syndrome. [1, 5]

Happy puppet syndrome


British pediatrician Harry Angelman is the first describer of this specific genetic disorder in 1965. Harry Angelman denoted this syndrome as happy puppet syndrome due to characteristics of afflicted children are a cheerful expression with jerky movements. Later this condition is also termed as Angelman syndrome to address the first investigator of this diseases and also many parents do not accept the name of this disease. [2]

Incidence Rate

Happy puppet syndrome is a rare disease and an estimated incidence rate is approximately one in Twelve thousand to Twenty thousand populace. [3]


Happy puppet syndrome symptoms are mainly related to nervous system disorder, as in this condition nervous system get affected. The characteristic features of happy puppet syndrome are

  • Delayed growth
  • Microcephaly or circumference of the head is smaller than the normal
  • Intellectual disability
  • Severe speech problem
  • Ataxia or body balancing and locomotion troubles

The above-mentioned sign and symptoms are noticeable in early childhood, though the delayed growth significant at the age between 6 to 12 months. The affected children often have recurrent epileptic seizures attacks.

Happy puppet syndrome affected children typically have a tendency of excited cheerful attitude with repeated smiling, hilarity, and hand- shaking movements. Along with these the following descriptive findings are also noticeable in Happy puppet syndrome.

  • Hyperactivity
  • Happy personality
  • Frequent smiling
  • Duration of concentration is shorter than the normal child
  • Flapping of hand
  • Uplift hand at the time of walking
  • Water enthrallment is common
  • Sleeping difficulty and this causes less amount of sleep with less tendency to sleep than the other normal child.

All the above-mentioned symptom are observed in childhood and continues even in their older age. some of the features which distinct the affected adult from the normal individual.

Typical facial features, which clinically termed as “coarse” facial features

  • Fair skin color
  • Lightened colored hair
  • Scoliosis or abnormal curvature of the spine extended from side-to-side
  • The affected individual has merely normal life span
  • Cardiac sensitivity [3,4,5]


The complex genetic disorder is the resultant of Happy puppet syndrome. The genetic disorder causes loss of gene functioning of the UBE3A.

The children inherit the targeted gene (UBE3A) to both the parents. Each parent supplies one copy of UBE3A. UBE3A is activated in multiple tissues of the body. Maternal copy of UBE3A gene is activated in specific brain tissues and genetically this phenomenon is termed as genomic imprinting. If UBE3A genomic imprinting hampers due to gene mutation and the resultant of this no active UBE3A gene is available in certain part of the brain.

The genetic investigation found different genetic mutation responsible for inactivation or deletion UBE3Agene (specifically maternal). Almost in 70% cases deletion of a segment of the maternal chromosome 15 is most responsible for the progression of Happy puppet syndrome, otherwise abnormal maternal genetic mutation of the also responsible for Happy puppet syndrome. In rare cases, when a child inherits two copies of paternal copies of chromosome 15 instead of one copy from each parent, which is called as uniparental disomy.

Other possible causes are defective translocation or abnormal DNA sequence that responsible for the UBE3A gene activation. The outcome of these anomalies is inactivated UBE3A or other maternal copy of chromosome 15. Beside the mentioned reasons, unknown cause also responsible for 10 to 15% of Happy puppet syndrome incidence.

The OCA2 genetic loss is also associated with fair complexion with light-colored hair, as this gene involves in pigmentation of the skin, hair, and eyes by producing a specific protein. [1,4,6]

Diagnosis and Management

Genetic medicine advancement can make it possible to diagnose Happy puppet syndrome since 1980. The symptomatic diagnosis is possible at the age between three to seven years of the affected child when the symptoms become prominent.

Clinical diagnostic process involves following tests:

  • Molecular genetic testing, in which expression or function deficiency found at the maternal inherited UBE3A.
  • Analysis of parent-specific DNA methylation imprints detects the hampering of imprinting at the 15q11.2-q13 chromosome region
  • UBE3A sequence analysis showed pathogenic modifications

The above mentioned diagnostic test result may not found all the cases, but any one cause is prominent in Happy puppet syndrome. [1,2,3]

After a diagnosis of the Happy puppet syndrome, a multiple clinical assistance is required to manage the difficulties of the patient. The recommended therapies are

  • Physiotherapy
  • Occupational therapy
  • Speech therapy
  • Infant child development
  • Neurological testing, including EEG
  • Massage therapy
  • Genetic counseling
  • Thoraco-lumbar jackets
  • Orthopedic surgery for scoliosis
  • Medications like antiepileptic drugs are prescribed to control seizures and sedatives for sleep disturbance at night. [1,3]


  1. Angelman syndrome; Genetic Home References; Retrieve from:  https://ghr.nlm.nih.gov/condition/angelman-syndrome#diagnosis
  2. What is Angelman syndrome? angelman Syndrome Foundation; Retrieve from: https://www.angelman.org/what-is-as/
  3. Aditi I Dagli, Jennifer Mueller, Charles A Williams, Angelman Syndrome; Initial Posting: September 15, 1998; Last Update: May 14, 2015. Retrieve from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1791803/
  4. S A Robb, K R Pohl, M Baraitser, J Wilson, E M Brett; ; Arch Dis Child. 1989 Jan; 64(1): 83–86. Retrieve from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1791803/pdf/archdisch00678-0025.pdf
  5. Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of Angelman’s (happy puppet) syndrome. Eur J Ped 1988;147: 503-13.
  6. Pembrey M, Fennell J, van den Berghe J, et al. The association of Angelman syndrome and deletions within 15qll-13. J Med Genet 1988;25:274.

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