NUCDF. So what do I do now? Today I will talk about: KEY POINTS: FUN

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1 So what do I do now? Neuropsychological evaluation results in Urea Cycle disorders and what to do about them Susan Waisbren, PhD Lead Psychologist, Longitudinal Study Boston Children s Hospital & Harvard Medical School Today I will talk about: Neuropsychological testing results from the Longitudinal Study on Urea Cycle Disorders Strategies for reducing, coping with or compensating for challenges in s A holistic approach to chronic health conditions KEY POINTS: FUN NF You can t FIX everything. UNVEIL the possible. NOTICE the body, mind, and the world Foundation 1

2 DQ Part 1: Neuropsychological testing results Remember Key Point # 1: You can t FIX everything. 120 Median Scores on Bayley Scales of Infant & Toddler Development Bayley Cognitive Composite ALD ASD CPSi CITR HHH OTC ALL CASES ARG Disorder NF Summary: Infants & Toddlers Weaknesses in motor area for ALD and CPS I Weaknesses in motor and language g for OTC Early cognition preserved in ASD, CITR, HHH, OTC Declines occur with increasing numbers of hyperammonemic episodes Foundation 2

3 Median Scores on the WPPSI-III Full Scale IQ Full Scale IQ Preschool Children IQ ALD ASA CPS I CITR HHH ARG OTC All Cases Disorder Summary: Preschoolers Weakness in Performance (Visual-Motor area) Likely that they are behind peers in language, self-help and coordination Median Scores on WASI, Ages 6-17 years IQ in School Age Children NF ALD ASD CPS I NAGS ARG OTC All Cases Foundation 3

4 Summary: School age (6-17) Declines in IQ noted for ASD and ALD OTC stayed the same % with intellectual disabilities increasing Clear increase in % with motor deficits, especially on pencil and paper tasks (VMI) Executive Functioning Ability to keep information in mind for problem solving Involves: attention, memory, planning, organization, and ability to inhibit an habitual response Is VERY susceptible to stress Executive Functioning Deficits 43-55% attention 40-49% goal setting and planning 38-62% working memory 33-35% initiating activities NF 32-34% organization 27-33% shifting from one activity to another Foundation 4

5 Full Scale IQ Deficits in Adaptive Skills 30-54% social relationships 33-79% self-care 26-50% assessing their own performance and their impact on others 15-19% emotional regulation (though 0% of children with ASA showed this). 0 Median Scores on WASI, Adults IQ in Adults ALD ASD CPSI HHH NAGS ARG OTC All Cases communitynf well in the Summary: Adults Increased rates of depression, especially in females with OTC Subtle learning deficits in OTC No evidence that older adults function less well than younger adults Perceived themselves as functioning Foundation 5

6 Subjects not able to complete age appropriate IQ test Group (N) Clinically diagnosed 0 HA episodes 1-3 HA episodes > 3 HA episodes ALD (7) ASD (10) HHH (1) ARG (4) NAGS (1) OTC (51) TOTAL (74) Part 2: Strategies for reducing, coping with or compensating for challenges in s Remember Key Point #2: UNVEIL the possible Strategies for coping with Executive Functioning deficits Structure Cues Prompts ReinforcementsNF Positive Foundation 6

7 Some activities Increase story time by 1 minute each day (use a timer) If a child shows mastery of a skill once, don t ask again Give a penny for each correct spelling or multiplication fact. Never take a penny away. More activities Set aside 10 minutes (use a timer) to play with your child but suggest they decide on the activity Get rid of clutter, lots of bins Give 2 and 1 minute warnings before shifting from an activity Use resources: NF Try to find a technological solution for each of your child s challenges Augmentative communication The latest products in mobility assistance Gastrostomy tubes Hearing aids, glasses Voice recognition software Consult the Educators Guide to Urea Cycle Disorders ( Foundation 7

8 Just for Parents Taking care of yourselves Your relationships Your health (exercise) Emotional well-being Finances Participate in neuropsychological follow-up Periodic assessments by neuropsychologists Complete Parent Questionnaires on-line Grandparents Simply love them NF Encourage parents to take care of their relationship Help parents get respite Follow home routine Validate the parents and the child Foundation 8

9 The person with a Develop an identity beyond your diagnosis Take advantage of the NF to meet others with a, learn more and get support Plan on psychotherapy especially at times of developmental transitions (often at ages 7, 13, 18, 23 and 30) Be open to alternative strategies Part 3: A holistic approach to chronic health conditions Remember Key Point #3: NOTICE the world Holistic: things should be studied as a whole and not just as a sum of their parts. Mind, body and the environment NF Perspectives on Quality of Life Children and adults with s rate their quality of life as better than do their parents They may know nothing different They may not care so much about the things parents care about Foundation 9

10 There are lots of ways to live a life Developing horizontally Not everyone can attain new academic skills So, go with what the person can do and do it in every way possible Underlying goals for our children Self-esteem and happiness Willingness to work hard Knowing when to stop Finding joy in overcoming challenges For example: Not everyone can do things independently So, have as many different people help out as possible, so the experience is richer Not everyone can travel So explore every possible road in your neighborhood Notice every changing season NF In Summary: Don t forget FUN You can t FIX everything. UNVEIL the possible. NOTICE the body, mind, and the world Foundation 10

11 Thank you! For your attention For participating and supporting research For never, ever giving up! NF Foundation 11

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