Schedule of Assessments for Children with PKU

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Phenylketonuria (PKU)

Bobbye Rouse, M.D.
Department of Pediatrics
University of Texas Medical Branch
Galveston, TX 77555-0319
(409) 772-2356


Patients with PKU obtain their health care, including immunizations and routine health problems, from their local physician. After the initial diagnosis of PKU has been made, the metabolic center staff is responsible for the on-going care for the patient's PKU. The metabolic clinic staff educates the family on PKU, provides counseling including the genetics of PKU and dietary management. The physician and nutritionist set up a schedule for periodic blood tests to monitor the patient's serum phenylalanine level and diet intake throughout life.

Even though the patient is seen frequently at the metabolic center, it will also be necessary for the patient to be seen by the primary care physician or designate more frequently than a child without PKU for blood tests. In the first year of life, it is usually necessary for a child with PKU to be seen every week for a blood draw and growth charting. After the first birthday, it is usually necessary for the child to be seen monthly until age 5. Since the care of every child with PKU is individualized the metabolic center will coordinate care with the primary care physician to determine the appropriate management for the child.

The metabolic center staff sends copies of all correspondence to the primary care physician. Issues relating to PKU and diet are handled by the metabolic center. If the patient calls the metabolic clinic for problems unrelated to PKU such as an earache, the clinic staff informs the patient to contact their primary care physician.

Some children with PKU, in spite of early treatment and good control, have problems learning. Screening can identify these early and allow for intervention. The yearly assessments are usually done at the metabolic center.  

PKU Assessment Tool

PKU Assessment Tool
Child's Name: Date of Birth: Date of Initiation of treatment:

Criteria for Definitive diagnosis:
Serum phenylalanine > 20 mg/dL; tyrosine < mg/dL
Procedure: for definitive Diagnosis: Between birth & 30 days
Definitive lab tests must be made before diet is initiated
Medical & family history
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Physicial Examination
Length, weight and head circumference
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Neurological examination
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Laboratory tests:
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Serum phenylalanine and tyrosine
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Bioterin screen: Blood spots and urine filter to:
Edwin Naylor, Ph.D.
Children's Hospital of Pittsburg Room 4224
3705 Fifth Ave.
Pittsburg, PA 15212-2583
(412) 692-5778
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Parent counseling on PKU including Genetics
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Dietary counseling:
Interpret diet prescription
Explain diet record forms
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Complete PKU Registry Form
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Follow-up weekly serum phe and tyrosine until stable. Parent mails 3 day diet record intake and growth measurements to nutritionist
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Serum phenylalanine and tyrosine from siblings
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Procedures and Ages
Procedure  
Age
     
1 to 5 years
Continues diet therapy, monitoring serum phe and tyro. Parent mails 3 day diet records with height, weight and head circumference to metabolic nutritionist
weekly
If the blood level is stable draw the blood monthly, if the blood level is not stable re-test until under control.
Suggested times: 3, 6, &
9 mo.
1 yr
1.5 yr
2 yr
2.5 yr
3 yr
4 yr
5 yr
Interim history including illnesses
Physical examination
Length, weight and head circumference
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Neurological examination
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Hemoglobin or hematocrit
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If there is a concern about developmental or psychological progress, these age appropriate language, intelligence and/ or academic evaluation should be done.

Developmental / Psychological Assessment and Ages
Developmental / Psychological Assessment
Age
 
6 mo
1 year
2 years
4 to 5 years
Bayley Scales of Infant Development II
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Child Behavior Checklist, Achenbach
(Completed by parent)
   
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Speech and 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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Test of Language Development (TOLD: 2-Primary)      
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Procedures and Ages
 Procedure
Age
  
6 years
7, 8, 9, 10 years
repeat all procedures each year
12 - 14 years
16 years
Continue therapy, monitoring serum phe and tyro. Parent mails 3 day diet records and growth measurements to nutritionist If the blood level is stable draw the blood monthly, if blood level is not stable re-test until under control.
Interim history including illnesses
Physical examination
Length, weight and head circumference
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Neurological examination
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Hemoglobin hematocrit
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Include child in Educational sessions on PKU issues, i.e., purpose of diet and blood test
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Genetic counseling including reproductive issues, i.e., Maternal PKU    
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Vocational counseling      
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Development / Psychological Assessment and Ages
 Development / 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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Knowledge of disease
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Test of Language Development (TOLD-2 P)
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TOLD-2 Intermediate  
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* If WIAT not available use WRAT-R and Peabody Individual Achievement Test (P.I.A.T.)  

Services Available for PKU Patients

The following services are available upon request of a physician to any resident of Texas who is diagnosed through the Newborn Screening Unit, Texas Department of State Health Services (DSHS).

Medical consultation is available by referral. The Metabolic Centers in Texas specialize in metabolic disorders and accept refferals of PKU patients for metabolic evaluation and follow-up care. Because of the complicated nature of controlling a PKU diet, TDH strongly recommends referral in all cases.

Direct nutritional care for the patient is usually provided by the metabolic center. This service includes regular monitoring of the diet prescription and conferences with parents.

Biochemical monitoring of serum phynylalanine is available through the DSHS Laboratory, Texas Department of State Health Services.

PKU blood collection kits can be provided, upon request, which include mailing containers and laboratory forms.

Educational materials are available for the physician, parents, and family of a child with PKU.

If you would like to request any of the above services for your patient please contact:

Newborn Screening Unit
Texas Department of State Health Services
1100 West 49th Street
Austin, Texas 78756
MC 1918
1-800-252-8023  

Last updated December 28, 2010