Question: I can't get a diagnois for my 3 yr old daughter any ideas? Please help!? we have been to ortho, genetics, behavior and neurolgists. Presents with-leg pain accomanied by occasional limited mobility associated with the pain, speech delay, regulatory & sensory disorder, acid reflux. sleep apnea, obesity(61lbs.) Height(104cm) head(53cm), behavior problems,numerous cafe-au-lait spots(not neurofibromaosis), palpebral fissures slightly upslanting,synophrys of the eyebrows, broad nasal bridge with epicanthal folds tip is slightly anteverted, long lashes, mild nasal mucosal edema, ears normal, chest & cardiac normal, generalized joint hyperextenibility and soft muscles, bilateral four finger lines, right proximal palmar crease is hypoplastic, lumbar lordosis, knock knee, neurologically tone decreased, mild dysmorphic appearance ,hirsutism, high arched palate, excessive thirst & urination. Already ruled out- Fragile X, Prader willie,DiGeorge, Angelman, and Bardet-Biedl Syndrome. Anyone have any ideas? No one will work with her behavior until diagnosis. Please help!!
Answer: Has you been offered a neuropsychology evaluation? It won't identify a physical syndrome per se, but it can identify brain-based behavior abnormalities (what areas of the brain may be contributing to behavior) and give a diagnosis to the behavior and from there, guide treatments. (Having a diagnosis also facilitates additional funding for kids with special needs)
If you go this route - make sure you find a pediatric neuropsychologist - some work mostly with adults.
Good luck - you're obviously thorough parents with your daughter's best interests in mind!
