Peyton

January 13 2001

 
 
Signs & Symptoms
 
Build / Stature

- Birth-6 pounds 4 oz 19” long

- Small for age (37 pounds 43inches at 8 years old)

Head

- Microcephaly
- Flat occuiput (back of head)
- Frequent headaches

Face
- Midface hypoplasia
Ears
- Cupped and protruding prominent ears w/ slightly thickened
helices
- Small ear canals

- Conductive hearing loss (moderate in right ear--borderline normal in left ear)
-
 Car wax buildup

-
 Frequent ear infections (not as a baby, since he is older)
-
 Ears always bright red

Eyes
- Downslanting palpebral fissures
- Long eyelashes
- Blue eyes--(Geneticist #1 "starburst" pattern) (Geneticist #2 "Brushfield spots of the irises")
- Strabismus
-
 Farsighted
 
Nose
- Upturned nose w/ bulbous tip
- Nose dimple
 
Mouth
- Slight mandibular prognathism (slight projection of the lower jaw)
- Narrow vermilion border
- Long philtrum
- Thin upper lip
- Cupid bow appearance to the mouth
 
Skin
- Eczema
- Rosy cheeks
Hair
- Low posterior hairline (born with head full of black hair)
 
Chest
- Widely spaced nipples
- Mild pectus excavatum
Respiratory System
- Asthma
- Recurrent respiratory Infections, croup 3 times in 1 year, pneumonia 5 times in 1 year
Alimentary Tract
- Gastro reflux till 15 months
Cardiac
- Heart murmur
- Atrial septic defect (closed on its own)
- PDA (patent ductus arteriosus) (needs surgery--put off till older)
Immune System
- Allergies (like father)
- Peanut Allergy
- Low immune system (always sick w/ colds, upper respitpry infections, pneumonia, bronchitis)
Neurological Functional
- ADHD
- Sensory integration issues, tactile defensiveness
Development
- Developmental delay (sat at 11 moths, crawled at 12 months, walked at 22 1/2 months)
- Speech/Language delay (
limited vocabulary-just started putting words together-everything sounds the same)
- Gross motor delays
- Fine motor delays
- Clumsy-poor coordination
 
Feeding
- Poor suck/swallow as a baby, poor appetite
- L
ow muscle tone
- Severe gag reflex
- Very picky eater (only eats a few things-no meats, no veggies, no fruits, mostly pasta)

- Tactile defensiveness
 
Behavior/Social

- Very friendly, loving child (rathers adults than children)
-
   Hyperactive
-
  Short attention span
-
  Aggressive behavior
-  
Destructive behavior
-
  Overly sensitive
-
 Obsessive behavior, liking exact routine
-
  Attention Seeking behaviors
-
  Increased and prolonged tantrums w/ some self injurious behaviors (headbutting, kicking, slapping, choking, clawing)

Misc
- SLEEP DISTURBANCE (hard time falling asleep and staying asleep) as a baby and young child
- Very colicky as a baby

- Muscle spasms as a baby

- Drools a lot

- Bruises easily

- Decreased sensitivity to pain

- FINALLY POTTY TRAINED (NOT TILL he was 7.9 years old)

- TIPTOE walking (waiting to see orthopedic doctor possible braces)

- Constipation and diarrhea
- This one is hard to explain-when concentrating on something, playing a game, watching tv, etc, his tongue hangs out of his mouth and he is constantly rolling it
Academic and Others
- Repeat 1st grader in a special education classroom w/ one-on-one support all day (just recently in the last month, moved to a new school district and this is the placement they have decided for him..previous school years was in an inclusion class ALL day w/ an aide)
-
 Doesn’t read or write ( can write his name only) ( can trace some letters)
-
  Grades –all F’s
-
 Short attention span, hyperactive, bad behaviors, and lack of communication makes school VERY DIFFICULT for him
-  His speech is very delayed, he can not talk in complete sentences, most of what he says is difficult for others to understand
-
  Receives Speech Therpy from the school 3x week, Occupation 1x month, PT consult only, APE 2x week, Music 1x week,
 
Laboratory Test and Findings
- Normal 46 XY karotype
- Downs syndromre -- normal
- 3 or 4 Williams Syndrome -- FISH -- normal
(clincially diagnosed w/ WS at 8 months, then said at 18 months not "typical" WS child)(?)
- Smith Magenis -- normal
- Angelman Syndrome -- normal
- Noonan Syndrome -- normal
- DiGeorge -- normal
- Subtelelomere FISH -- normal
- Genomic Microarray -- norma
- Abnormal EEG -- (shifting, asynchronous bi-central low voltage spike and wave activity w/ phase reversals at CZ, C3, and C4-
- Also potential epilptogenic focus in the central head region)
- Abdominal ultrasound -- normal
- Cat scan of the brain -- normal
- MRI -- normal
- TSH thyroid -- normal
- T4 thyroid -- somewhat low
 

Contact: Niki mom to Peyton at mommie2peyton@yahoo.com

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