Case Overview

Current status: 22 month old with developmental delay in fine and gross motor skills, issues with reflux, no obvious impaired cognitive ability.  Short stature relative to parents (height 5% percentile, weight 10% at 22 months)

Update: At 23 months, still cannot nod his head up and down.  (communicated "yes" by whole-body bobbing).  Appears to have rather high pain tolerance (feedback from his OT and special education teacher)
 

Possibly relevant family history:  Mother did not creep, commando crawled until 14 month, then began walking; also only 1 of 5 children that did not breast feed.  Oldest maternal aunt did not speak until 20 months.  Maternal grandfather indicated he had motor skill delays as a child and infant, but passed away (sudden cardiac death at 64) before more information could be gathered.  No other known motor skill issues on either side of family.

While the lineage of DL’s facial features are not abnormal, (i.e. shape of eyes – fathers, protruding ears – maternal aunt and grandmother, blue eye color (father Bb, mother bb with hazel ring around the iris) the geneticist has tested him for:

• Williams Syndrome (due to the ring around the iris, as well as a pixyish skull shape (which maternal grandmother also has). NEGATIVE
• Fragile X (due to ear morphology and language delay) NEGATIVE -- both mother and son have 43 repeats.
• Down Syndrome  NEGATIVE

At our 18 month visit, we briefly discussed the possibilities that DL may have Floating Harbor syndrome, again due to language delay and his convex nose (same nose as mother as a child) but DL shows no other symptoms, and so we did not test for this.

Other physiological issues:

• Grade 2 Kidney reflux on the right side
• Currently on Bactrim.  Switched from Furadantin at 9 months because he threw up copious amounts of food within 20 minutes of medicine, 90% of the time, since 2 months of age.
• Constipation common, increasing in severity at 12 months, but not as common post 18 months.
• Weight "drifting" from 30% to 10% at 12 month check-up. Back at 20% at 18 months.
• GERD - prescribed Zantac at 12.5 months due to history of bi-weekly, random copious vomiting, frequent (daily) spitting up, and weight drift.  Switched to omeprazole at 19 months, due to night-time “spit-ups”
• At 22 months, wakes up 1x/night 90% of time. 
• Blood tests at 12 months were normal, although he did show low iron.  We gave him iron vitamin drops for a while, but stopped due to increasing constipation, and now rely on prune juice and other food sources for iron.
• Constantly has a stuffy nose.
• Really hated mid-day and afternoon day light until 9 months of age.  (I don't know if this even matters...but it was more than what I saw of other children at his daycare.)

History and Progress to Date:

DL was born in San Francisco after a relatively normal pregnancy – pre-eclampsia developed in the 37^th week.  His delivery was fairly normal, induced at week 37 after membrane rupture (fortuitous as lab results had just indicated pre-eclampsia, but was slow to progress, resulting in 40 hour in utero exposure to MgSu, as well as 9 courses of penicillin).  APGAR’s at birth; 8 and 10, birth weight 7lbs. 13 oz.).  DL was rather listless, with limited feeding response, and after two days was transferred to the NICU for poor feeding and jaundice, with hospital discharge at 6 days.  At 2 weeks, DL developed a UTI and accompanying fever to 101.6°; was admitted and treated with gentamicin and ampicillin with no complications.   Renal ultrasound was normal.  Upon discharge, he was placed on Keflex.

Although DL was able to raise his head at birth, and roll over by 3 months (both ways by 4 moths), by the 7^th month his parents became a bit concerned that he could not sit by himself, was not babbling, other than open vowels and squeals.  At 12 months, his primary mode of locomotion was rolling, (he did not crawl or creep, and showed scapular winging), and we were finally referred to a pediatric neurologist who diagnosed global delay, and referred us for further tests, including genetic analysis.  He had an MRI at 14 months that showed no abnormalities.

Gross Motor

DL has been in physical therapy since 13 months, and was commando crawling at 12.5 months, creeping at 14 months, standing on his own at 18 months and was walking, unassisted, at 19 months. At 22 months, he is able to jump, but does not walk up or down stairs, unassisted, cannot run, or walk backwards.  He falls easily, especially if fatigued, and seems to do better on rough surfaces (outside, with leather slipper-shoes on) then smooth, fixed surface, or wearing thin-soled shoes.  His pediatric neurologist thinks his reflexes might be slightly brisk, his geneticist disagrees.  He cannot yet shake his head “yes” – his whole body moves up in down when he tries.

Fine Motor

DL has been in occupational therapy since 15 months.  Use of a z-vibe greatly reduced his drooling, but it still is present.  He is able to chew and swallow, but will stuff his mouth if allowed, and seems not have a sense of the food once it is in his mouth (pocketed food until 19 months).  He still does not use a pincer grip, and at 21 months could feed himself if his elbow was supported.  He is able to mark on paper with a crayon (at 20 months) but is not able to trace a line.  He has recently begun to be able to stack blocks, but only 2, (at 22 months).  He trembles quite a bit, especially early in the morning, if he has a cold, or after a fatiguing event (going to the park, working with a therapist, etc.)  He had an EEG at 18 months that showed no abnormalities.

Language

DL started speech therapy at 20 months, although neurological and cognitive tests between 18-19 months indicate that his receptive language skills are age appropriate.   The only consistence consonants he forms are Mmm (from 12 months) Ma (18) Moo (19) Tich (140) Ta (18)  Ka (20) Du (from 22 months).  He often develops a word (tikka for stick at 12 motnhs, although it’s more mumbly than I can indicate here, “tuuk” for truck) and use it constantly for roughly 4 weeks, and then loose interest in using that word spontaneously in referring to said object.  At 22 months, he appears to be attempting to make double-syllable words.  He uses modified sign-language (due to fine motor skill issues) and can string signs together to indicate “Open, please” “Up, please” “All done, up, please.”

Adaptive/Emotional

His adaptive abilities are slightly more advanced than age appropriate, perhaps to compensate for his limited physical abilities.  He shows age-appropriate emotional response, and is a sweet, happy little boy, with an “observer” personality.  He has an unusually expressive face, which allowed him to communicate his desire even without using sign language, and his petite size, big blue eyes, curly blond hair, and big smile meant that he was a bit enabled by the older children in his preschool, particularly the girls, who would delight in bringing him toys and apple juice bottles, even when the bottled were not his.  This perhaps delayed his need to form more formal methods of communication. 

He loves being outside (his first “word” was “ow-tie” for outside.  His second was “tikka”), cars, books, the moon, balls.  He has no interest in stuffed animals, although he enjoys feeding out dogs, and waves bye-bye to them every morning on the way out of the house.  He likes music, particularly tenor opera singers, jazz, and (sadly for mom) the Wiggles.

I am attempting to get copies of his lab results, but am having difficulties getting his full medical files from our HMO.  I will post these when I get them.