Genetic syndromes
Genetic syndromes are any genetic alteration that can cause alterations in the developmental process of the nervous system and that can be reflected in the child’s psychomotor and cognitive development. The physical, motor, cognitive and behavioural effects that may occur depend on the genetic syndrome, genetic expression and other environmental factors. They can range from children with mild cognitive disorders to profiles with serious motor impairment and intellectual disability.
CLASSIFICATION OF GENETIC SYNDROMES
Genetic syndromes form a heterogeneous group of conditions with a genetic component in their origin, and can be classified into:
- Chromosomal disorders: Genetic syndromes caused by structural or numerical alterations of chromosomes. These are the most studied and known.
- Monogenic defects: Genetic syndromes caused by alterations in a single gene. They are the most numerous and heterogeneous.
- Multifactorial disorders: Genetic syndromes in which there are alterations in more than one gene and that are affected by environmental aspects.
THE MOST COMMON GENETIC SYNDROMES
- Down syndrome (Trisomy 21)
- Turner syndrome
- Fragile X syndrome
- Williams syndrome
- Angelman syndrome
- Prader-Willi syndrome
- Edwards syndrome
During the first sessions of child physiotherapy, we examine the child and collect all the data needed to set up a personalised programme, including an interview with the family to find out relevant aspects in order to establish the most appropriate plan for the child’s recovery:
In order to devise a child occupational therapy treatment programme adapted to the needs of each individual child, several key aspects are explored in the first sessions:
Child speech therapy begins with an assessment involving a physical examination of the child and the administration of standardised tests and questionnaires.
The Child Neuropsychological Intervention always takes place in individualised sessions which work individually with each child or young person.
Music therapy is one of the treatment options available at Guttmann Barcelona, for both adult and paediatric patients affected by neurological injuries or diseases at different stages within the rehabilitation process.
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Wednesday, 21 August, 2024
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