Diagnosis Search
The parents of this child are anxiously searching for a diagnosis. If you have any information or suggestions you would like to share with them, please send an e-mail to diagnosis@specialchild.com. Please be sure to mention the name of the child you are referring to so that your message can be immediately forwarded to the parent. Thank you for taking the time to stop by - we appreciate your interest in helping parents with their search.
Allison Baker, DOB 2/12/96
Features and Characteristics:
- Severe developmental delay
- Non-verbal
- Flat feet
- Hypotonia
- Stands with arms in "high-guard" position
- Extremely poor balance (unable to sit unassisted)
- Severe feeding difficulties
- Borderline microcephalic (will be very soon)
- Happy demeanor - laughter with and without provocation
- Wide-spaced teeth
- Protruding tongue
- Frequent drooling
- Mouthing behaviors (raspberries, slurping, biting hand)
- Non-ambulatory
- Strabismus
- Arm-flapping
- Easily excitable and hyperactive (always moving)
- Hyperactive deep tendon reflexes
- Abnormal EEG (no seizures)
- Slow but steady development (no regression)
Testing with negative results:
- Clinical diagnosis of Angelman syndrome - FISH, Methylation, and UBE3A studies are negative
- Williams syndrome FISH
- Tetrasomy 18p mosaic skin biopsy
- CT-scan and MRI (only slightly enlarged right ventricle)
- Rett Syndrome (MecP2 negative)
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