Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one (bone density screening), full consensus was reached.1
The GalNet Guidelines recommend assessing cognitive disorders, speech/language delays, neurological complications, psychosocial deficits, and other measures of development from early childhood through the teenage years, and according to specific needs as adults.
Approximately two-thirds of patients with Classic Galactosemia have disorders of language and/or speech, including2:
According to the GalNet Guidelines, all children with Classic Galactosemia should be tested for speech and language delays beginning at age 7-12 months and thereafter at 2, 3, and 5 years of age (in conjunction with the cognitive tests described above).
Assessments include hearing tests, evaluation of prelinguistic communication skills (age <2 y), and additional assessments for any child not meeting language developmental milestones.
In addition to developmental and language impairment, neurological (motor) complications may emerge, including2:
GalNet neurological guidelines
GalNet recommends patients with Galactosemia be examined for ataxia, tremor, dysmetria, dystonia, and other neurological complications beginning from ages 2-3 years1:
Mental & Behavioral Health
Galactosemia is a life-long condition that requires continuous management.
Children with Classic Galactosemia should be screened for psychosocial deficits and emotional disturbances using assessments such as the Behavior Assessment System for Children (Second Edition).1
Screening should commence at age 2 in conjunction with the screening recommendations for language and speech deficits, and should thereafter be combined with the developmental testing recommended at ages 4-5, 8-10, and 12-14 years.1
Mental & Reproductive Health
In adults, standardized tests for depression and anxiety should be administered, and frank discussions of living conditions, work and/or educational status, relationship satisfaction, and sexual intimacy should be initiated at outpatient clinic visits, with referral for counseling as needed.1
GalNet Gonadal Screening Guidelines
Girls with Galactosemia should be screened for hypergonadotropic hypogonadism if at 12 years old they exhibit insufficient secondary sex characteristics or do not have regular menses by the age of 14 years.1
Females with Galactosemia who progress through puberty and establish a regular menstrual cycle should nonetheless be screened annually for the development of menstrual abnormalities, secondary amenorrhea, and ovarian insufficiency.1
As Classic Galactosemia does not typically affect fertility in males, routine endocrinological evaluations in males are not recommended.1
Cataracts may be present during the first weeks of life in up to 25% of patients with Classic Galactosemia, depending on the study.
Cataracts have been reported to develop in approximately 21% of adult patients.4
All patients with Galactosemia should be referred to an ophthalmologist at time of Galactosemia diagnosis, and for ophthalmological follow-up after a cataract diagnosis until the cataract has resolved.1
It is recommended that patients who are non-compliant with dietary restrictions be screened for cataracts.1
You can review the complete GalNet International Classic Galactosemia Guidelines here.