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 |
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2½ |
> 3 |
3½ |
4 |
4½ |
5 |
5½ |
| 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) |
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| Vocational counseling (at 16 years) |
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*Frequency of monitoring by pediatric metabolic specialists may vary