Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

Abstract

Introduction. Noonan syndrome (NS) is a genetically determined disease, inherited from autosomal dominant. About 50% of patients have a mutation in the PTPN11 gene, and mutations in the other genes are much less frequent, up to 10–15% for SOS1, RAF1, and RIT1, as well as up to 1–2% for others. Aim. To present the clinical picture of a child with NS with a non-frequent mutation in the RAF1 gene and to describe a proposal of good practice based on the multi-specialty child care procedures used from birth to 3 years of age. Case Report. The paper presents a boy with NS and his psychomotor and linguistic development during the 36 months of his life. The infant was born by cesarean section in average general condition and with features of macrosomia. Castillo-Morales rehabilitation techniques were used to improve the coordination of suction, swallowing and breathing. Bobath Neurodevelopmental Treatment was also used on the hospital ward. The NS child’s development was assessed using the Munich Functional Developmental Diagnostics (MFDD). At the age of 36 months, the boy presents psychomotor development appropriate for the age of a healthy child. He remains under multidisciplinary team care and is intensively rehabilitated accordingly to both movement and linguistic functions. Discussion. Management of NS should be comprehensive and multidisciplinary, and continuous monitoring of patients is crucial. Although a number of patients experience learning difficulties and a mild form of mental impairment, the diagnosis of NS does not predispose to mental disorders. Conclusions. NS is a multi-symptomatic disease that manifests itself in the expression of clinical symptoms requiring the interdisciplinary cooperation of many specialists. The fact is that the identified mutation in the RAF1 gene in patients with NS does not mean they are predestined to develop psychomotor disorders. (JNNN 2019;8(2):78–85)

Keywords

• noonan syndrome
• raf1 gene mutation
• pediatric clinical diagnosis
• interdisciplinary rehabilitation
• psychomotor development
• interventional speech therapy