Maternal PKU Study Update A follow up study funded by a Milton Grant and the National PKU Alliance.

Maternal PKU Maternal PKU Study UpdateStudy UpdateA follow up study funded by a A follow up study funded by a Milton Grant and the National Milton Grant and the National

PKU AlliancePKU Alliance

Purpose of the Study:Purpose of the Study:

To see how mothers with PKU and their offspring To see how mothers with PKU and their offspring are doing and to understand the are doing and to understand the long term long term outcome of pregnancies in women who have PKUoutcome of pregnancies in women who have PKU

The Australian sample only looked at 9 mothers The Australian sample only looked at 9 mothers and 30 offspring (age 18 months-10 years) and and 30 offspring (age 18 months-10 years) and only did a developmental assessment of 9 only did a developmental assessment of 9 offspring belonging to 5 mothersoffspring belonging to 5 mothers

For mothers with PKU who are looking to have For mothers with PKU who are looking to have children, knowing how MPKU offspring are doing children, knowing how MPKU offspring are doing not just right after birth but as much as 20 years not just right after birth but as much as 20 years later is very helpfullater is very helpful

The Sample (so far):The Sample (so far):

24 mothers ranging from 23-48 (average age is 24 mothers ranging from 23-48 (average age is 40)40)

48 offspring ranging from 2 months-26 years 48 offspring ranging from 2 months-26 years

0-2- 10 subjects0-2- 10 subjects




18+- 3 subjects18+- 3 subjects

How are we measuring How are we measuring how the subjects are how the subjects are

doing?doing? IQ (mothers and offspring)IQ (mothers and offspring)

Executive functioning (mothers and offspring)Executive functioning (mothers and offspring)

Prevalence of Anxiety/Depression/ADHD (mothers Prevalence of Anxiety/Depression/ADHD (mothers and offspring)and offspring)

Physical exam (mothers and offspring)Physical exam (mothers and offspring)

Home Scale--measure of home environment Home Scale--measure of home environment (offspring)(offspring)

Nutrition analysis (mothers)Nutrition analysis (mothers)

Labs—especially Phe level (mothers)Labs—especially Phe level (mothers)

Photos to look at dysmorphology (mothers, Photos to look at dysmorphology (mothers, offspring, and fathers if possible)offspring, and fathers if possible)

What have we found?What have we found?

The mean IQ for mothers is 96 (with a The mean IQ for mothers is 96 (with a standard deviation of 16)standard deviation of 16) 5 of 24 have below average IQ (<85), and 4 of 5 of 24 have below average IQ (<85), and 4 of

those 5 are currently off dietthose 5 are currently off diet

The mean IQ for offspring is 98 (with a The mean IQ for offspring is 98 (with a standard deviation of 17standard deviation of 17 6 of 48 offspring have below average IQ(<85), 6 of 48 offspring have below average IQ(<85),

and they are a mix of early (on diet <6 weeks and they are a mix of early (on diet <6 weeks into pregnancy) and late treated (>6 weeks) into pregnancy) and late treated (>6 weeks) (we don’t have an exact number because we (we don’t have an exact number because we are still gathering medical records)are still gathering medical records)

What have we found?What have we found?

Correlation between the mothers and their Correlation between the mothers and their offspring’s IQ is 0.7offspring’s IQ is 0.7

Mean Phe level is 1052 umol/L (17 mg/dL)Mean Phe level is 1052 umol/L (17 mg/dL)

Less than half of the mothers are currently on Less than half of the mothers are currently on diet (10 out of 24)diet (10 out of 24)

A look at treatment during A look at treatment during pregnancy and offspring IQ pregnancy and offspring IQ

scores:scores:Early treated pregnancy

(prior to conception or <6 weeks into pregnancy)

Late treated pregnancy (>6 weeks into pregnancy)

Low IQ 1 5

High IQ 6 10

A look at mothers current A look at mothers current adherence to diet and adherence to diet and

offspring IQ scores:offspring IQ scores:Mother Off Diet Mother On Diet

Low IQ 3 4

High IQ 11 18

Anxiety and Anxiety and Depression:Depression:

Anxiety in Mothers:Anxiety in Mothers: 6 mothers with mild anxiety, 1 with moderate, and 6 mothers with mild anxiety, 1 with moderate, and

1 with severe1 with severe The ones with moderate and severe were both The ones with moderate and severe were both

currently off diet, the ones with mild anxiety were currently off diet, the ones with mild anxiety were split 50/50split 50/50

Depression in Mothers:Depression in Mothers: 3 with mild depression, 2 with moderate 3 with mild depression, 2 with moderate

depressiondepression Of the two with moderate depression, one was on Of the two with moderate depression, one was on

diet and the other was notdiet and the other was not

Anxiety, Depression, and Anxiety, Depression, and ADHDADHD

Anxiety in Offspring:Anxiety in Offspring: 3 were identified with anxiety based on the 3 were identified with anxiety based on the

neuropsychological questionnaires filled out by the neuropsychological questionnaires filled out by the parents parents

3 more were reported to suffer from anxiety on their 3 more were reported to suffer from anxiety on their health history forms filled out by their parentshealth history forms filled out by their parents

2 of the 3 who had high anxiety scores on their 2 of the 3 who had high anxiety scores on their neuropsych questionnaires were not reported by neuropsych questionnaires were not reported by their parents as having anxietytheir parents as having anxiety

Depression in Offspring: Depression in Offspring:

1was identified with depression1was identified with depression

ADHD in Offspring:ADHD in Offspring: 2 had scores indicating attention problems and none 2 had scores indicating attention problems and none

had scores indicating hyperactivityhad scores indicating hyperactivity 6 more were reported to have been diagnosed and 6 more were reported to have been diagnosed and

were currently being treated for ADHDwere currently being treated for ADHD

What’s next?What’s next?

We are on the process of planning a trip to Toronto We are on the process of planning a trip to Toronto to work with Dr. William Hanley and a number of to work with Dr. William Hanley and a number of PKU mothers and offspring at his clinic therePKU mothers and offspring at his clinic there

We are also planning to finish up with local We are also planning to finish up with local subjects in the next month or so and then begin subjects in the next month or so and then begin analysisanalysis

We are excited to have much more to share next We are excited to have much more to share next year!!year!!

Maternal PKU Study Update A follow up study funded by a Milton Grant and the National PKU Alliance.

Documents

Transcript of Maternal PKU Study Update A follow up study funded by a Milton Grant and the National PKU Alliance.