By Janet Coulter, MSN, MS, RN, CCM, FCM
Angelman Syndrome (AS) has gained significant visibility since August 2024, when actor Colin Farrell publicly shared that his son had been diagnosed with the condition. To further support those affected, Farrell established the Colin Farrell Foundation, dedicated to transforming the lives of individuals and families impacted by intellectual disabilities. The foundation focuses on education, awareness, advocacy, and innovative programs. In addition to Farrell’s efforts, athletes like Michael Jurgens of the Minnesota Vikings, assistant coach Tony Sorrentino, and Colin Holderman of the Pittsburgh Pirates are also contributing to awareness campaigns, as they each have family members living with Angelman Syndrome.
AS is a rare neurogenetic disorder that affects an estimated 500,000 individuals worldwide, including fewer than 50,000 people in the United States. It results from a lack of functional UBE3A protein in the brain, leading to a range of neurological symptoms. The disorder typically becomes apparent between the ages of 6 and 12 months, as children begin to exhibit developmental delays, including difficulty with feeding, delayed motor skills, and seizures. Genetic testing can be complex and depends on the symptoms presented and available diagnostic tools, as AS shares overlapping features with other conditions. Early diagnosis and intervention are crucial for optimal outcomes.
Key Symptoms of Angelman Syndrome:
- Developmental Delays: Lack of crawling or babbling by 6 to 12 months.
- Intellectual Disability: Profound cognitive delays.
- Speech Delays: Little to no speech development.
- Motor and Balance Impairment: Difficulty walking or maintaining balance.
- Positive Affect: Frequent smiling, laughing, and signs of happiness.
- Hyperactivity: Often accompanied by a short attention span, which typically diminishes with age.
- Feeding Difficulties: Challenges with sucking or feeding at an early age.
- Sleep Disturbances: Trouble falling and staying asleep.
Other common manifestations include seizures (often beginning between ages 2-3), stiff or jerky movements, a small head size by age 2, and behavioral signs such as hand flapping or raised arms while walking. Individuals may also exhibit strabismus, scoliosis, and light-colored hair, skin, and eyes.
Case Management Considerations
Case managers working with individuals diagnosed with Angelman Syndrome focus on addressing a range of health and developmental challenges. These often include:
- Developmental Delays: Early developmental milestones such as crawling and babbling are often delayed, necessitating early intervention services, including physical and occupational therapy.
- Hyperactivity and Attention: Children with AS are commonly hyperactive with a short attention span, which may improve with age. Behavioral therapy can help manage these behaviors.
- Sleep Management: Sleep disturbances are common in children with AS. While medication is not typically prescribed, behavioral strategies and sleep interventions can be beneficial.
- Nutrition and Feeding: Infants with AS may require high-calorie formulas to ensure adequate weight gain, and they may need close monitoring to prevent choking, as placing objects in the mouth is typical.
- Seizure Management: Seizures, which often emerge between 2-3 years of age, require close monitoring, and anticonvulsant medications may be necessary.
- Weight and Obesity: Older children with AS may experience obesity, which requires ongoing monitoring and dietary management.
For families, the diagnosis of Angelman Syndrome can be overwhelming, and parents may face unique emotional and physical challenges. Case managers should prioritize providing emotional support, guidance, and resources for coping with setbacks, as they can be particularly difficult for parents. Encouraging families to celebrate small milestones and focusing on the strengths of the individual with AS is key. Genetic testing may also be a valuable resource for families with a history of the condition.
Increasing awareness of Angelman Syndrome is crucial to enhancing the quality of life for individuals affected by the disorder. Efforts by high-profile individuals and organizations, such as the NFL, MLB, and the Colin Farrell Foundation, play an essential role in driving public awareness and research initiatives. A greater focus on research could lead to breakthroughs in treatment and, potentially, a cure.
By raising awareness and providing comprehensive care, case managers can significantly improve the outlook for individuals with Angelman Syndrome and their families.
Reference:
Mayo Clinic, Angelman Syndrome Overview: www.mayoclinic.org/diseases-conditions/angelman-syndrome
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Bio: Janet Coulter, MSN, MS, RN, CCM, FCM is President of CMSA. She is a transplant case manager with a wide variety of experiences including educator, administrator, team leader, and Director of Case Management. Janet holds a Master of Science in Nursing from West Virginia University and a Master of Science in Adult Education from Marshall University. She has published many articles in CMSA Today and the Professional Case Management Journal and served as a reviewer for the Core Curriculum for Case Management Third Edition. She has served as President-Elect of CMSA, Chair of the CMSA Today Editorial Board, Chair of the Nominations Committee, and Vice-President of the CMSA Foundation board. Janet was the recipient of the CMSA National Award of Service Excellence and Southern Ohio Valley CMSA Case Management Leadership award and was recently inducted as a Case Management Fellow from CMSA.