Angelman syndrome

Angelman syndrome
Other names	Angelman's syndrome, happy puppet syndrome
A five-year-old girlie plus Angelman syndrome. Features wey dey show dey include telecanthus, bilateral epicanthic folds, small head, wide mouth, den an apparently happy demeanor; hands plus tapered fingers, abnormal creases den broad thumbs.
Specialty	Medical genetics
Symptoms	Delayed development, unusually happy, intellectual disability, speech problems, balance den movement problems, small head, seizures
Usual onset	Noticeable by 6–12 months
Causes	Genetic (new mutation)
Diagnostic method	Based for symptoms top, genetic testing
Differential diagnosis	Cerebral palsy, autism, Rett Syndrome, Prader-Willi syndrome
Treatment	Supportive care
Prognosis	Nearly normal life expectancy
Frequency	1 insyd 12,000 to 20,000 people

Angelman syndrome (AS) be a genetic disorder wey mainly dey affect de nervous system. Symptoms dey include a small head den a specific facial appearance, severe intellectual disability, developmental disability, wey be limited to no functional speech, balance den movement problems, seizures, den sleep problems. Those wey be affected usually get a happy personality wey dey get a particular interest for water insyd.

Angelman syndrome be secof a lack of function of part of chromosome 15, typically due to a new mutation rada dan one dem inherit. Most often e be secof a deletion anaa mutation of de UBE3A gene for dat chromosome top. Occasionally e be secof de inheritance of two copies of chromosome 15 from de poppie den none from de mommie (paternal uniparental disomy). As de poppie ein versions be inactivated by a process dem know as genomic imprinting, no functional version of de gene dey remain. Diagnosis be based for symptoms top den possibly genetic testing.

No cure be available. Treatment be generally supportive for nature insyd. Dem dey use anti-seizure medications for those plus seizures. Physical therapy den bracing fi help plus walking. Those wey be affected get a nearly normal life expectancy.

Signs den symptoms

Signs den symptoms of Angelman syndrome den dema relative frequency insyd affected individuals be:

Consistent (100%)

• Developmental delay, functionally severe
• Speech impairment, no anaa minimal use of words; receptive den non-verbal communication skills higher dan verbal ones
• Movement anaa balance disorder, usually ataxia of gait den/anaa tremulous movement of limbs
• Behavioral characteristics of de types wey dey follow types: any combination of atypical frequent laughter/smiling; atypically happy demeanor; easily excitable personality, often plus hand flapping movements; hypermotoric behavior; short attention span

Frequent (more dan 80%)

• Delayed, disproportionate growth insyd head circumference, usually dey result insyd microcephaly (absolute anaa relative) by age 2
• Seizures, onset usually less dan 3 years of age
• Abnormal EEG, characteristic pattern plus large amplitude slow-spike waves

Associated (20–80%)

• Strabismus
• Hypopigmented skin den eyes
• Tongue thrusting; suck/swallowing disorders
• Hyperactive tendon reflexes
• Feeding problems during infancy
• Uplifted, flexed arms during walking
• Prominent mandible
• Increased sensitivity to heat
• Wide mouth, wide-spaced teeth
• Sleep disturbance
• Frequent drooling, protruding tongue
• Attraction to/fascination plus water
• Excessive chewing/mouthing behaviors
• Flat back of head
• Smooth palms
• Gastroesophageal reflux disease (GERD)
• Constipation

Diagnosis

De diagnosis of Angelman syndrome dey base on:

• A history of delayed motor milestones den then later a delay insyd general development, especially of speech
• Unusual movements wey dey include fine tremors, jerky limb movements, hand flapping den a wide-based, stiff-legged gait.
• Characteristic facial appearance (buh no be insyd all cases).
• A history of epilepsy den an abnormal EEG tracing.
• A happy disposition plus frequent laughter
• A deletion anaa inactivity on chromosome 15 by array comparative genomic hybridization (aCGH) anaa by BACs-on-Beads technology.

Differential diagnosis

Oda conditions wey fi appear similar dey include:

• Autism spectrum
• Cerebral palsy
• Rett syndrome
• Mowat–Wilson syndrome
• Adenylosuccinate lyase deficiency
• Pitt–Hopkins syndrome
• Phelan–McDermid syndrome
• Prader–Willi syndrome

External links

• GeneReviews/NCBI/NIH/UW entry on Angelman syndrome