Galactosaemia
Psychological and behavioural characteristics
The information below has been drawn up by Dr Orlee Udwin of the Society for the Study of Behavioural Phenotypes.
Even with early diagnosis and immediate treatment psychological and learning difficulties are apparent. Intellectual abilities tend to be in the low average or borderline range. Even children with average cognitive abilities have a high prevalence of speech and language problems. These are most marked in the area of expressive language, and include a limited vocabulary, difficulties with word finding, syntax and grammar, articulation disorders, and transpositions of words in sentences. Deficits in verbal recall and problems with abstract reasoning have also been described. In contrast, understanding of language tends to be age appropriate. Some visual-perceptual difficulties have been noted in up to half of the cases, and problems with co-ordination, gait and balance in about one-quarter.
There are reports of progressive neurological disease and a decline in IQ scores in affected individuals with increasing age, though the latter may be due to the use of different cognitive assessments at different ages.
Behavioural and personality characteristics reported to be associated with galactosaemia include lack of confidence and assertiveness, anxiety, social withdrawal and timidity. These can lead to difficulty in obtaining independent employment. Yet some affected adults are reported to cope well with work, marriage and parenthood.
What are the symptoms?
| What are the causes? ![]()