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Leandra Rose

KARYOTYPE:  46 XX, del 3p (25.33-26.1)
DOB:  4-15-2010
Contact:  Lisa & Joe
E-MAIL: 
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Background
Leandra was diagnosed with 3p25.3 - 26.1 deletion in Oct 2011 (18 months old).  We had the genetic testing done because she had universal developmental delays (approx. 50% delay) plus lack of eye contact & not responding to her name. We also have a 6yr old (Eliana) that has had no developmental issues.  We have not had Eliana tested because we were tested & were found to not have any genetic issues.  
 
Leandra's History
- Born at 38wks via C-Section due to breech position & also severe IUGR
- Mom was 38yrs old & Dad was 42yrs old
- Weighed 4lbs. 12oz. with no medical issues at birth, no NICU, no oxygen, regular nursery 
- Formula-fed & Pureed Baby Food, Eats Well, Sleeps Excellent, Very Content Baby
- Constantly congested the first 12 months; 2 ear infections
- At 8 months, noticed that Leandra is fascinated by light.
- Hospitalized for 2wks at 10 months due to an urinary tract infection & blood infection; no issues found with bladder or kidneys; suspected poor immune system
- At 12 months, not sitting & not responding to her name & poor eye contact; diagnosed with hypotonia (low muscle tone); Drs. also suspected autism
- Not very exploratory prior to 14 months; was content laying in same spot for more than 30 minutes
- Began Early Intervention at 14 months: Physical Therapy 1x wk; Developmental Therapy 2x wk; Speech Therapy 1x month
- Tympanogram (hearing test) at 14 months - failed but passed other hearing tests; we have not gotten tubes & we haven't had further hearing testing
- EEG at 14 months - suboptimal results because Leandra wouldn't lay still but there has been no signs of seizures
- MRI at 15 months - everything normal
- Began sitting up at 15 months
- Began crawling at 16 months & standing 2 weeks after
- EKG & Echocardigram at 18 months - everything normal
- Diagnosed with 3p-syndrome (primary) & autism (secondary) at 18 months (does not seem to act like what you would expect an autistic child to act.  The diagnosis is more based on the poor eye contact & delayed verbal skills.)
- Began swallowing puffs, cheerios & cookies at 19 months
- She stopped drinking from the bottle at about 19 months for no apparent reason. We transitioned to a straw.
- Began walking at 22 months
 
Leandra at 2.5yrs (10/15/2012)
- She has an across the board delay of 6 - 9 months - better at some things than others.
- She is still on the small side.  5% for height & weight but she's getting stronger & she's getting smarter by the day.
- Her chewing skills need work - she still eats mostly baby food & small cookies, pieces of bread.  She seems to keep food in the middle of her mouth.
- She mouths everything except new foods - everything!
- No speech aside from a lot of babbling & some imitation of sounds - appears related to tongue not moving from side to side
- Leandra appears to understand everything we say (both in English & Spanish) & she is attempting communication through signing "give me", "more" & "all done" and taking us to where she wants to go & now by pointing at pictures
- Leandra's fascination with light has lessened. We try to keep the lights off as much as possible during the day so that we can keep her attention on other activities.
- She turns when she hears her name or voices; eye contact is incredibly better
- She loves to play & explore. She "gets" jokes that we play on her. She does ok in social settings as long as it's not too loud.
- New skills are learned on her terms (quite stubborn - lol)
- Overall health is excellent. Leandra is not on any medication.

Continuing with Early Intervention (10/15/2012)
** Physical Therapy 1x wk (working on jumping, coordination)
** Speech Therapy 1x week (working on sounds & communications through pictures & signs)
** Occupational Therapy 1x week (working on puzzles, stacking, putting items into holes)
** Developmental Therapy 2x wk (working on socializing, following directions, communicating through pictures & signs)

Started public school self-contained Pre-K with max of 12 children & 3 to 1 aid ratio (04/16/2013)
** Physical Therapy 2x wk (2 sessions of 30 mins, one on one) (working on jumping, coordination)
** Speech Therapy 2x week (2 sessions of 30 mins, one on one) (working on sounds & communications through pictures & signs)
** Occupational Therapy 2x week (2 sessions of 30 mins, one on one) (working on puzzles, stacking, putting items into holes, oral motor issues)

Leandra at almost 4yrs (03/14/2014)

- She has a speech delay of 12-24 months - very few words & signs but her comprehension is very good
- She is still on the small side.  5% for height & weight but continues to get stronger & she's getting smarter by the day.
- Her chewing skills still need work - she still eats mostly baby food & small cookies, pieces of bread.  She seems to keep food in the middle of her mouth.  She now eats pudding!
- She doesn't mouth non-foods as much as she used to. 
- Minimal speech but she does follow the rhythm of a song with her 'la,la,la' and she continues to attempt to make sounds that she hears.  Still has togue thrust issue.

-Now distinctly calls 'mama!' when she needs something, can't say 'papa' but she uses a deeper voice with the word 'mama' when she needs 'papa'; also calls maternal grandparents 'nana'

- Her awareness has grown significantly.  She is very aware of what is going on around her.

- Let's us brush her teeth with a regular toothbrush & a little bit of toothpaste.
- Leandra appears to understand everything we say (both in English & Spanish) & she is attempting communication through signing "give me", "more" & "all done" and taking us to where she wants to go & now by pointing at pictures
- Leandra's fascination with light continues. We try to keep the lights off as much as possible during the day so that we can keep her attention on other activities.
- She engages us when she wants to play or needs something.
- She loves to play & explore. She "gets" jokes that we play on her. She has gotten much better in social settings but loudness is still a factor although it has gotten better.
- New skills are learned on her terms (still quite stubborn - lol).  She can bring an empty spoon to her mouth to mimic self-feeding.  She can also take her coat off & attempts to put clothes on!
- Overall health is excellent. She has gotten less colds & congestion this year as compared to last.  Leandra is not on any medication.

Continuing with public school self-contained Pre-K but now with one-on-one aid (03/14/2014) 
** Physical Therapy 2x wk (2 sessions of 30 mins, one on one) (working on jumping, coordination)
** Speech Therapy 3x week (3 sessions of 30 mins, one on one) (working on sounds & communications through pictures & signs)
** Occupational Therapy 2x week (2 sessions of 30 mins, one on one) (working on puzzles, stacking, putting items into holes, oral motor issues)

Our daughter is a fun-loving girl.  She loves to play contact games especially rough-housing with Daddy.