Peyton

Abby

Signs & Symptoms


Build / Stature: - Birth-6 pounds 4 oz 19” long; - Small for age (37 pounds 43inches at 8 years old)

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

Respiratory System: - Asthma; - Recurrent respiratory Infections, croup 3 times in 1 year, pneumonia 5 times in 1 year

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
- Low 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 1^st 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

Any troubles with e-mails send to swanusa@undiagnosed-usa.org