Schedule of Assessment for Galactosemia

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Criteria for definitive diagnosis: red cell levels of enzyme activity
Affected enzymes: galactose-1-phosphate uridyl transferase (GALT)
PROCEDURE: for definitive diagnosis Between birth & 30 days-diet immediately after positive screen
Medical & Family History
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Physical examination - length, weight, head circumference
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Neurological examination
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Ophthalmologic examination
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Laboratory tests -
a) galactose-1-phosphate uridyltransferase levels
b) other enzyme analysis as indicated
c) gal-1-P levels at first evaluation
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Nutritional consultation for galactose elimination diet, interpret diet prescription, explain diet records
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Social service assessment
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Procedures and Ages
PROCEDURE
3 mo
6 mo
9 mo
12 mo
15 mo
18 mo
21 mo
2 yr
Physical examination & growth parameters
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Neurological examination
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Ophthalmologic exam as determined by ophthalmologist's initial exam      
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Laboratory tests: gal-1-P level *May be used for follow-up of dietary compliance
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Continued diet therapy with nutritional consultation
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Social service assessment (every 6 months)  
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Parents education on galactosemia (including genetic counseling with the first year)
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*Frequency of monitoring by pediatric metabolic specialists may vary.  

Developmental/Psychological Assessment and Ages
DEVELOPMENTAL/ PSYCHOLOGICAL ASSESSMENT*
6 mo
1 yr
2 yr
3 yr
4-5 yr
Bayley Scales of Infant Develpment II
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Child Behavior Checklist, Achenbach (completed by parent)
 
 
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Speech & Language Assessment: Sequenced Inventory of Communication Development **
 
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McCarthy
 
 
 
 
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Beery Test of Visual Motor Integration
 
 
 
 
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TOLD: 2 - Primary
 
 
 
 
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*These are suggested optional assessment tests. Any time there is a concern about developmental or psychological progress, age appropriate evaluation should be done to assess language, intelligence, and academic performance.

**Speech and language problems can occur at any age. If primary care physician suspects speech/language problems, prompt referral to a speech pathologist is indicated.

Procedures and Ages
PROCEDURE
AGE IN YEARS
 
>
3
4
5
Physical examination & growth parameters
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Neurological examination
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Ophthalmologic exam as recommended by ophthalmologist
 
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Laboratory tests: gal-1-P level *May be used for follow-up of dietary compliance.
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Continued diet therapy with nutritional consultation
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Social service assessment
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*Frequency of monitoring by pediatric metabolic specialists may vary.

Developmental/Psychological Assessment and Ages
DEVELOPMENTAL/ PSYCHOLOGICAL ASSESSMENT
7 TO 8 YEARS
11 TO 12 YEARS
Wechsler Intelligence Scale for Children (WISC-III)
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Beery Test of Visual Motor Integration
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**Wechsler Individual Achievement Test (WIAT)
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School Behavior Questionnaire, Achenbach (completed by parent and teacher)
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TOLD - 2 Primary
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TOLD - 2 Intermediate  
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Assess child's knowledge of galactosemia
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**If WIAT is not available, use WRAT-R and Peabody Individual Achievement Test (PIAT)

Procedures and Ages
PROCEDURE
Repeat annually at years
6 - 16
Physical examination & growth parameters
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Neurological assessment
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Ophthalmologic exam as indicated
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Laboratory tests: gal-1-P level *May be used for follow-up of dietary compliance.
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Continued dietary therapy - include child in educational sessions on galactosemia as to purpose of diet and blood tests
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Social service assessment
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Pediatric Gynecology and/or Pediatric Endocrinology Evaluation (at 9 years)
 
Vocational counseling (at 16 years)
 
*Frequency of monitoring by pediatric metabolic specialists may vary

Last updated December 14, 2010