Sofía padece el síndrome 5p- o síndrome del maullido de gato

5p- syndrome and effectiveness of neuropsychological rehabilitation: the story of Sofía


 What is 5p- syndrome?

5p- syndrome is arare genetic disorder caused by a deletion of part of the short arm of chromosome 5.This condition is characterized bya distinctive cat-like cry inaffectedinfants, due to anomalies of the larynx (e.g., laryngeal hypoplasia).

5p- syndrome affects an estimated 1 in 20,000 to 50,000 live births and is more common in females by a 4:3 ratio.

5p- syndrome characteristics

Clinical features of this condition include:

  • Biomedical characteristics: small head circumference (microcephaly), abnormally round face, high-arched or ogival palate, hypotonia, foot deformities,hearing (hypersensitivity to noise)and vision (strabismus) difficulties.
  • Cognitive characteristics: intellectual disability, short attention span,delayed development, emotional dysregulation.
  • Behavioral characteristics: difficulty in interacting with others,stereotypies and obsessive behavior.
  • Communication characteristics: delay and difficulty in language acquisition; receptive language skills appear to be better than expressive language skills.

Symptoms vary greatly among individuals with 5p- syndromedepending upon the size of the deleted genetic material.

 The Fundación Síndrome 5p-

The Fundación Síndrome 5p-(5p- syndrome foundation) supports families of individuals with 5p- syndrome by offering therapies and counseling. It also conducts outreach and awareness-raising activities and supports research aimed at improving the quality of life of those affected and their families.

The foundation’s professionals develop personalized intervention programs from a multidisciplinary approach for every individual. For this reason, the foundation’s team is made up of a speech therapist, two psychologists and two occupational therapists.

Speech therapy:restoration of impaired skills and maintenance of preserved abilities to help patients reach their highest possible level of function;stimulation of intentional communication,use of augmentative and alternative communication (AAC) devices, etc.

Psychology:providing attention, counseling and psychological accompaniment by developing tailored workshops and interventions. Behavioral intervention for children.

Occupational therapy: promoting maximum independencein activities of daily living (ADLs) as well as promoting appropriate sensory integration interventions.

Our experience with NeuronUP

Our professionals rely on NeuronUP, a web platform dedicated to cognitive stimulation and rehabilitationthat aims attraining cognitive functions through the use of information and communication technology (ICT).

This platform has been very well received due to the growth of new technologies. Our clients direct their behaviorthanks to motivating stimuli such as the use of the tablet, computer or any other electronic device.

Sofía and NeuronUP

15-year-old Sofia was born with 5p- syndrome. She enjoys swimming, playing drums and interactive games. This last hobby inspired the use of NeuronUP in her treatment. She has been using the platform for three years already, participating in one-hour sessions each week.  For these sessions, the occupational therapist is responsible for planning activities based on her performance level. These activities particularly target literacy skills, sustained attention, and executive functions. In addition, Sofía performs tasks aimed at improving activities of daily living (ADLs) which complement and support occupational therapy intervention.

In conclusion, Sofia’s improvement resides in her motivation for NeuronUP, in the large variety of activities available and in the possibility of adapting activities to her abilities and interests, thus improving generalization of learning.

If you are interested in learning more about rare diseases, you might like to read thisblog poston Tourette syndrome:

El síndrome 5p- y la rehabilitación neuropsicológica: la historia de Sofía
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El síndrome 5p- y la rehabilitación neuropsicológica: la historia de Sofía
A través de la historia de Sofía, afectada por el síndrome 5p-, exploramos la efectividad de la rehabilitación neuropsicológica.
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