UNC to Open Comprehensive Angelman Syndrome Clinic
February 3, 2012 marks the grand opening of the UNC Comprehensive Angelman Syndrome Clinic at the Carolina Institute for Developmental Disabilities (CIDD).
Funded in part by the Angelman Syndrome Foundation, this new clinic brings together multiple subspecialists into one setting to address the complex medical and psycho-educational needs of individuals with Angelman syndrome and their families.
Depending on the specific concerns, patients and their families have access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist.
“This is one of the few clinics in the nation dedicated to Angelman Syndrome, but is unique in including all of the above disciplines, making it a ‘one-stop-shop’ for these complex cases,” said CIDD director, Joseph Piven, MD, Sarah Graham Kenan Professor of Psychiatry at UNC. “The CIDD is committed to doing research and linking research with clinical practice to bring the best care to our patients.”
Related to autism and occurring in one in 15,000 live births, Angelman Syndrome characteristics include absence or near absence of speech throughout the person’s life, intellectual and developmental delay, severe intellectual disability, seizures, sleep disturbance, motor and balance disorders. Individuals with the syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand flapping. No effective therapies exist for AS to date.
During clinic visits, individuals with AS and their families will consult with experts from all subspecialties. Direct assessment will be conducted when appropriate and a treatment/intervention plan will be developed.
Angelman Syndrome is a neurogenetic disorder first described by English Physician Harry Angelman in 1965. The condition was considered to be extremely rare - indeed many physicians doubted its existence - until the 1980s when a deletion on the maternal 15th chromosome was discovered to be the cause of Angelman Syndrome in a majority of cases.
Today, the Angelman Syndrome Foundation is aware of approximately 1,000 cases in the United States, but thousands more are believed to exist throughout the world, as yet undiagnosed.
Classic features of Angelman Syndrome include a stiff jerky gait; severe developmental delay; absent speech; happy demeanor; hypopigmented skin; a protruding tongue; and seizures. Children with Angelman Syndrome are also reported to display a fascination with water and plastic, and many experience sleep disturbances.
Collaboration and direct consultation with primary care physicians and other allied health professionals in the patient’s medical home will be conducted when needed to assist in streamlining services.
In addition to these interdisciplinary services, the clinic will provide a foundation for clinical research collaboration and training opportunities for the next generation of clinicians and researchers in the field of neurodevelopmental disabilities.
What are the characteristics, signs, and symptoms of Angelman syndrome?
Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months.
Seizures often begin between 2 and 3 years of age.
Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits.
Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
“With the interdisciplinary services available here at the CIDD, we believe we’ll be able to significantly expand the resources and provide new directions for improving the quality of life for individuals with Angelman Syndrome and their families,” said Anne Wheeler, PhD, CIDD psychologist and AS Clinic co-coordinator. “It is an honor to be a part of such an important clinical service here at the CIDD.”
Symptoms of Angelman syndrome
What are the symptoms of Angelman syndrome? Babies born with this disorder do not show any Angelman syndrome at birth. The signs of delayed growth and development are noticeable between 6-12 months of age. By the age of 2-3 years, children with Angelman syndrome often begin to experience seizures. Some of the other signs and symptoms of Angelman syndrome are as follows:
Retardation
Unusually happy demeanor
Microcephaly (small head)
Large jaws
Jerky movements
Unstable jerky gait
Hand flapping
Developmental delay
Diminished speech
Laughter
Severe mental retardation
Motor development delay
Fits of inappropriate laughter
Absent speech
Microbrachycephaly
Blond hair
Eye anomalies
Decreased eye pigmentation
Pale blue eyes
Maxillary hypoplasia
Deep-set eyes
Large mouth
Tongue protrusion
Widely spaced teeth
Protruding jaw
Ataxia
Jerky arm movements
Puppet-like gait
Characteristic arm position
Arms held up and flexed at wrists and elbows
Seizures
Major motor seizures
Akinetic seizures
EEG abnormalities
Reduced muscle tone
Hyperreflexia
Cerebral atrophy
Left hand preference
Children with this syndrome have difficulty in sleeping, eating and toilet training. Moreover, some other symptoms of Angelman syndrome seen in children with this condition are flat heads with heads that are generally small in size. Around 80% of Angelman syndrome cases suffer from epilepsy.
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Source: University of North Carolina at Chapel Hill School of Medicine