Description
Ataxia in children is a neurological disorder characterized by impaired coordination, balance, and voluntary muscle movements. Ataxia is a term used to describe a group of disorders that affect the cerebellum, a part of the brain responsible for coordination and balance. There are various types of ataxia in children, including hereditary ataxias (genetic), acquired ataxias (due to injury or illness), and idiopathic ataxia (of unknown cause). Common symptoms include unsteady gait, tremors, difficulty with fine motor skills, slurred speech, and problems with eye movements. Hereditary ataxias often result from genetic mutations, while acquired ataxias may be caused by brain injuries, infections, or toxins. Diagnosis involves a thorough medical history, physical examination, neurological tests, and imaging studies like MRI or CT scans to assess the brain's condition. Management depends on the underlying cause. Symptomatic treatment may include physical and occupational therapy to improve motor skills and assistive devices for mobility. In cases of hereditary ataxia, genetic counseling is essential to assess the risk of passing on the condition to future generations. The prognosis varies based on the type and severity of ataxia. Some forms may be progressive, while others remain stable or improve with therapy.
Résumé
- Ataxia is a movement disorder characterized by impaired voluntary movement and excessive involuntary movements, leading to abnormalities in tone, posture, balance, and fine motor control. It involves the inability to make smooth, accurate, and coordinated movements, affecting motor, sensory, articulation, and other functions.
- The cerebellum plays a crucial role in coordination, posture, locomotion, and volumetric movements. It receives inputs from various parts of the body and sends outputs to the premotor cortex, descending systems, and vestibular nuclei, operating at a subconscious level. Lesions in the cerebellum or its connections can lead to ataxia.
- Causes of ataxia are diverse, including genetic, inflammatory, infective, neoplastic, and metabolic factors. Acute ataxia is often linked to infections, while chronic ataxia can be genetic or degenerative. Episodic ataxia presents with intermittent periods of normal function.
- Infective causes of acute ataxia include chickenpox and other viral infections, while congenital causes involve malformations like the Joubert syndrome. Genetic causes encompass conditions like Friedreich's ataxia and ataxia-telangiectasia. Metabolic causes include vitamin E deficiency and abetalipoproteinemia.
- Clinical examination clues for ataxia etiology include fever history suggestive of viral infections, drug ingestion history suggesting toxins, and trauma history suggesting intracranial bleeding. Neurological signs such as pendular reflexes indicate cerebellar involvement, while sensory loss points to sensory ataxia. Meningeal signs suggest CNS infection.
- Investigations for ataxia involve general blood work, CSF studies, EEG, and CT/MRI scans to rule out infections, structural abnormalities, and metabolic disorders. Nerve conduction studies and urine tests for specific metabolites can aid in diagnosis. Management includes addressing the underlying cause and providing supportive care.
- Inherited ataxias often manifest with symptoms lasting over two weeks and are more frequent in consanguineous marriages. Specific syndromes like Joubert syndrome present with hypotonia, developmental delay, and a "molar tooth" appearance on MRI. Friedreich's ataxia involves cardiac and skeletal muscle involvement due to a genetic mutation.
- Management strategies include symptomatic treatment, immunosuppression in certain cases, and addressing specific deficiencies or metabolic imbalances. Physical therapy and multidisciplinary approaches are often necessary to improve motor coordination and quality of life.
Exemple de certificat
À propos des intervenants
Kushal Dilip Ugale
Psychologue clinicienne consultante au Sunshine Counselling and Therapy Center
Commentaires
Commentaires
Vous devez être connecté pour laisser un commentaire.