Follow-Up and Community Care of the Child With a Chronic Disease

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DOI :10.26650/B/CH32.2024.010.036   IUP :10.26650/B/CH32.2024.010.036    Full Text (PDF)

Follow-up and Community Care of the Child with Chronic Neuromuscular Disease

Hülya Maraş Genç

Neuromuscular diseases are a heterogeneous group of acquired or inherited conditions of the peripheral nervous system (motor neuron, peripheral nerve, neuromuscular junction, muscle). In children, these are mostly genetic such as Duchenne muscular dystrophy, spinal muscular atrophy, and Charcot-Marie-Tooth disease. Recently, treatment approaches have been developed that will change the natural course of diseases. Advances in the symptomatic treatment and rehabilitation of neuromuscular diseases have increased the quality of life and survival of patients. International consensus standards have been established to optimize the follow-up of common neuromuscular diseases. The followup of children with neuromuscular disease is a long process ideally managed by a multidisciplinary team comprising doctors (pediatricians, pediatric neurology, physical therapy, orthopedics, pediatric chest, pediatric cardiology, pediatric gastroenterology, child psychiatrists), physiotherapists, child development specialists, psychologists, social workers, speech-language and occupational therapists, special educators, and the family. Psychosocial support is a major aspect during follow-up of chronic diseases. Families should be aware of the social rights for disabled children. Immunization schedule should be individualized for each patient based on their disease and immunosuppressive treatments. In this chapter, multidisciplinary approaches for children with neuromuscular diseases including physical therapy and rehabilitation, orthopedic, nutritional, gastrointestinal, pulmonary, cardiac and psychosocial approaches, drug treatments, acute care, and immunization will be explained.


Keywords: Neuromuscular diseases, child, multidisciplinary approach, rehabilitation, follow-up
DOI :10.26650/B/CH32.2024.010.036   IUP :10.26650/B/CH32.2024.010.036    Full Text (PDF)

Kroni̇k Nöromusküler Hastalığı Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

Hülya Maraş Genç

Nöromusküler hastalıklar, sinir sisteminin (motor nöron, periferik sinir, sinir-kas bileşkesi, kas) etkilendiği edinsel veya kalıtsal heterojen bir grup hastalıktır. Çocuklarda nöromusküler hastalıklar çoğunlukla genetik nedenlidir ve en sık görülen hastalıklar Duchenne musküler distrofi, spinal musküler atrofi ve Charcot-MarieTooth hastalığıdır. Son yıllarda hastalıkların doğal seyrini değiştirecek çok önemli tedavi yaklaşımları gelişmektedir. Ayrıca nöromusküler hastalıkların semptomatik tedavisi ve rehabilitasyonuyla ilgili önemli gelişmeler olmuş, çocuların hayat kalitesi ve sağ kalımı artmıştır. Sık görülen nöromusküler hastalıkların takibini en iyi düzeye çıkarmak için uluslararası uzlaşı standartları oluşturulmuştur. Nöromüsküler hastalığı olan çocukların takibi uzun bir süreçtir ve bu süreç, hastalığın farklı yönlerini değerlendiren multidisipliner bir ekip tarafından ideal olarak yönetilir. Bu ekipte doktorlar (çocuk doktorları, pediatrik nöroloji, fizik tedavi, ortopedi, pediatrik göğüs, pediatrik kardiyoloji, pediatrik gastroenteroloji, çocuk psikiyatrisi uzmanları), fizyoterapistler, çocuk gelişim uzmanları, psikologlar, sosyal hizmet uzmanları, dil-konuşma ve iş-uğraşı terapistleri, özel eğitimciler ve aile yer almaktadır. Kronik hastalıkların izleminde psikososyal destek en önemli konu olmalıdır. Engelli çocukların sosyal hakları konusunda ailelere bilgi verilmelidir. Aşılama programı her hasta için hastalığına ve bağışıklık sistemini baskılayan tedavilere göre bireyselleştirilmelidir. Bu bölümde nöromusküler hastalığı olan çocuklarda fizik tedavi ve rehabilitasyon, ortopedik, nütrisyonel, gastrointestinal, pulmoner, kardiyak ve psikososyal yaklaşım, ilaç tedavileri, acil durumlar ve bağışıklama konularını içeren multidisipliner yaklaşım ve izlem anlatılacaktır. 


Keywords: Nöromusküler hastalıklar, çocuk, multidispliner yaklaşım, rehabilitasyon, izlem

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