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Parth is the only child of a non-consanguineous marriage. He delivered
vaginally at 34 weeks with good Apgar score and Bw of 3-2 kg. He
was very floppy at birth with narrow palpebral fissures. There were
no neonatal complications or H/o convulsions or any major illness.
- His motor milestones were delayed with neck holding at 8 months
and unsupported sitting at 2 1/2 yrs, cruising with marked ataxia
at 5 years of age.
- Mental milestones were fairly normal – social smile 2 month,
speech at 2 1/2 yrs but unclear and sphincter control by 5 years.
No drooling.
- Mastication good, Mild ptosis, nystagmus and squint present.
- He was in kindergarten at 2 1/2 yrs and later in a special school.
He knows nursery rhymes, colours, identifies pictures speaks slowly
and slightly unclear but in full sentences.
- He has been receiving PT and OT since the age of 2 1/2 yrs (now
mainly at his school.)
- Neurologically – there is hypotonia marked in lower limbs with
intention tremors in UL and truncal and gait ataxia Nystagmus
+ Cerebellar dysarthria + No extrapyramidal signs.
Developmental evaluation:
- Can come to sitting position on own from supine position, comes
to standing posture using both hands for support against the wall,
cruising laterally with ataxia - broad based gait, can stand with
both hands for support.
- Moves by crawling or in sitting position crossed by sitting
possible squatting or sitting position. Crossed by sitting possible.
- Squatting with support, can feed himself dry snacks with mild
hand-mouth incoordination, cannot suck with a straw. Sips well
from a glass, cannot manage to wear clothes.
- Handwriting slow and limited.
- General understanding and intelligence fairly good.
Improvements after G – Therapy:
Nystagmus disappeared, speech and balance improved within the
first two months of G therapy. He could now stand with support of
one hand only, was walking independently on the crutches. Hand-mouth
coordination and handwriting showed improvements as well. His learning
ability, and social behaviour was much better after G Therapy. He
was more confident – riding a bicycle, writing and counting 1-20
and asking intelligent questions.
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