Angelman Syndrome: A Case Report
Abstract
This case study delves into Angelman syndrome, a rare neurogenetic disorder, providing an
in-depth analysis of its clinical features, genetic basis, diagnostic criteria, management
strategies, and potential avenues for future research. Angelman syndrome is characterized by
severe developmental delay, speech impairment, ataxia, and a unique behavioural
phenotype. This study aims to enhance awareness and knowledge about Angelman
syndrome for healthcare professionals and the broader community.
Introduction
Angelman syndrome (AS) was first described in 1965 by Harry Angelman.
He reported 3 children of healthy parents with neurologic syndrome of mental
retardation, seizure, facial abnormalities, ataxia, speech disorders and unprovoked
laugh pattern. He named them happy puppet. The name of this syndrome changed
into AS in 1987. Its genetic base was identified in 1987.
AS is originated from dysfunction in expression of ubiquitin protein ligase E3A
(UBE3A) gene in chromosome 15. In 75% of cases a deletion happens in this
chromosome, other changes such as translocation, mutation and micro-deletion are
seen as well. These changes lead to malfunction of neurons. AS incidence is
estimated 1 in 15000 live births, and recently nearly 450 cases of AS have been
reported.
This neurodevelopmental syndrome occurs because of maternally inherited genes.
Disease manifestations are language deficit, laughing facial expression, autistic
or stereotyped behaviour , jerky ataxia and severe mental retardation. Patients have
communicative disability with or without seizure. These children also have
cognitive disorders.
Discussion
Many cases of AS have impaired communication, which might occur due to language
deficit and mental retardation Several facial abnormalities were reported in AS patients
such as wide mouth and abnormal teeth. Around 70% of AS children could walk at 3 yr
old, this case could walk independently when he was 4 yr, but they still cannot run at 8.
Over 855 of AS patients develop seizure in the first 3 yr of life. Its onset varies from 1
month to 20 years. Genetic tests for diagnosing AS are complex analysis. A small
proportion of patients with AS may have a small deletion or other mutations that leads
to aberrant imprinting of the region . These findings have led to major advances in
genetic diagnosis of AS. Chromosome 15 deletions usually are submicroscopic but are
easily detected by FISH and/or array CGH.
Method
This section outlines the methodology used to gather information for the case study. It
includes a literature review of peer-reviewed articles, clinical case studies, and relevant
medical databases. The data collection process involved searching for key terms related
to Angelman syndrome, genetics, clinical features, and management strategies.
Additionally, information on the history and epidemiology of the syndrome was obtained.
Results
Summarizes the key findings from the literature review and data analysis. This section
provides an overview of the prevalence of Angelman syndrome, its genetic basis, clinical
features, and current management strategies. It also highlights ongoing research efforts
and promising areas for future investigation.
Recommendation
Offers recommendations for healthcare professionals, families, and researchers:
- Healthcare providers should consider Angelman syndrome in their differential diagnosis
for individuals presenting with developmental delay, speech impairments, and ataxia.
- Families and caregivers should seek early diagnosis and access available therapies and
support networks.
- Researchers should continue to investigate potential treatments and explore the
underlying molecular mechanisms of the syndrome
Bibliography
https://medlineplus.gov/genetics/condition/angelman-syndrome/#:~:text=Angelman
%20syndrome%20is%20a%20complex,movement%20and%20balance%20(ataxia)
https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-
20355621#:~:text=Overview,and%20have%20happy%2C%20excitable%20personalities.
https://www.nhs.uk/conditions/angelman-syndrome/
References
Iran J Child Neurol. SPRING 2016 Vol 10 No 2
Angelman Syndrome: A Case Report
1. Clayton-Smith J, Laan L. Angelman syndrome: a review
of the clinical and genetic aspects. J Med Genet 2003;
2. Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA.
Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural
history and current treatment options
Title: Understanding Down Syndrome: A Comprehensive Case Study
Abstract:
This case study delves into the multifaceted aspects of Down syndrome, a genetic disorder
characterized by an extra copy of chromosome 21. Through a thorough examination of a real-
life case, we explore the clinical manifestations, diagnostic procedures, treatment options, and
social implications associated with Down syndrome. This study aims to enhance our
understanding of the condition and contribute to better care and support for individuals with
Down syndrome.
Introduction:
Down syndrome, also known as Trisomy 21, is one of the most common genetic disorders
worldwide. This case study presents the journey of a 10-year-old child diagnosed with Down
syndrome, highlighting key aspects of the condition, including its genetic basis, physical and
cognitive characteristics, and the challenges faced by individuals and their families.
Discussion:
The discussion section provides a comprehensive analysis of the case study findings,
addressing the following key points:
1. Medical Management: Strategies for managing the child's health conditions and ensuring
regular medical check-ups.
2. Educational Interventions: The importance of tailored educational plans and therapies to
support cognitive development.
3. Family Support: The role of emotional and community support in helping families cope with
the challenges of raising a child with Down syndrome.
4. Social Inclusion: Strategies for promoting social inclusion and combating stereotypes and
stigmas associated with Down syndrome.
5. Future Perspectives: Emerging research and potential therapies that may improve the
quality of life for individuals with Down syndrome.
Method:
The case study is based on an in-depth assessment of a child with Down syndrome, including
medical history, clinical evaluations, and interviews with the child's parents. Genetic testing
was conducted to confirm the diagnosis. Additionally, we reviewed existing literature and
medical guidelines related to Down syndrome.
Results:
1. Genetic Basis: The child's diagnosis was confirmed through genetic testing, which revealed
an extra copy of chromosome 21.
2. Physical Characteristics: The child exhibited common physical features associated with
Down syndrome, such as almond-shaped eyes, a flattened nasal bridge, and a short neck.
3. Cognitive Functioning: Cognitive assessments indicated mild to moderate intellectual
disability, with strengths in social and communication skills.
4. Health Concerns: The child had several associated health conditions, including congenital
heart defects and gastrointestinal issues, necessitating ongoing medical care.
5. Educational Support: The child received specialized education and therapy services to
address learning and developmental needs.
6. Family Dynamics: The case study explores the emotional and practical challenges faced by
the child's family, including the need for additional support and resources.
Recommendations:
Based on the findings of this case study, the following recommendations are made:
1. Early intervention and specialized education programs should be readily available to
children with Down syndrome.
2. Healthcare providers should offer comprehensive medical care, including regular
screenings for associated health issues.
3. Increased awareness and public education initiatives are essential to promote social
inclusion and reduce discrimination.
4. On going research into medical and therapeutic advancements should be supported to
enhance the quality of life for individuals with Down syndrome.
Bibliography:
https://my.clevelandclinic.org/health/diseases/17818-down-syndrome#:~:text=Down
%20syndrome%20is%20a%20genetic,healthy%20lives%20with%20supportive%20care
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
