Cognitie en het ontwikkelende brein in galactosemie.

Rationale:

Classic galactosemia is a hereditary disorder caused by the body’s inability to breakdown galactose, a sugar mainly found in milk. A galactose-restricted diet (soy diet) is the basis of therapy. This, however, does not prevent the emergence of long-term complications. One of these long-term complications is related to cognition. Reduced intelligence quotient (IQ) scores as well as impairments in speech and language have been reported. In fact, ninety percent of affected children have speech problems, usually diagnosed as Childhood Apraxia of Speech (CAS) (i.e. an impairment of motor programming of speech musculature). However, at present, CAS is over-diagnosed. This means that there are patients that receive a treatment for CAS, while other speech disabilities are being overlooked and not addressed properly resulting in suboptimal treatment. Our preliminary research concerning speech shows that syntax is a major problem in these children. The innovative approach in this study, examining the different levels of speech (e.g. semantic and syntactical speech) in combination with behavioral data and simultaneous brain activity recordings, aims to elucidate which levels of speech are specifically impaired in these children. Pinpointing at which level speech and other cognitive functions are affected is imperative to design successful treatment approaches with a better outcome.



Objectives:

To elucidate which areas of speech are specifically affected in children and adolescents with classic galactosemia; and to sketch a profile of the galactosemic patients’ general cognitive functions and of the development of these cognitive functions.



Study design:

Observational case control design consisting of a neuropsychological assessment and a behavioural paradigm with simultaneous electroencephalographic brain activity recording.

Specific areas of language production are affected in children and adolescents with classic galactosemia, in particular syntactic production. Further, it is hypothesized that the galactosmic patients will show a profile of general cognitive functions deviating from typically developing children and adolescents.

Two sessions will be scheduled: One for the neuropsychological test and one for the EEG study.

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