He smiles, so wide and sun-shinny. A 9-year-old boy came tightly held by his mother in his broad based gait. I attempted rapport building. He spurted me saliva all over. He has
Angelman syndrome with most of the following features:
Consistent (100%)
- Developmental delay, functionally severe
- Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
- Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
- Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
Frequent (more than 80%)
- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
- Seizures, onset usually less than 3 years of age
- Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
Associated (20 - 80%)
- Strabismus
- Hypopigmented skin and 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 with water
- Excessive chewing/mouthing behaviors
- Flat back of head
Half way through history taking, again he spurted me saliva.
"Don't play with saliva." I said, not knowing earlier that impaired swallowing mechanism and saliva drooling are the features. Mother warned him by a gentle slap on his lips. He was still smiling. Happily and contented.
He is the only child. The diagnosis was certainly life changing to the family. To expect a child is joyous, but who would anticipate a needful kid? I saw his mother teaching him patiently. I noticed the mother's cross pendant. I saw motherly love.
They stepped out the clinic meeting his father. The touch his dad offered was tender. The whole family walked away with much laughter. Staring at their shadows, I am glad for such loving and supportive family. He remains the angel of the family despite being a little extraordinary.
His smile will stay with me vividly. It is indeed the happiest disease I have ever seen. Hope my ignorance was forgiven.
So smile back if somebody is smiling at you. It may be the only way he communicates.
Updated on 24/7/09.
