Bridging the Gap: Parents' Knowledge of Childhood Developmental Milestones and the Early Identification of Children With Developmental Delay.

Background Monitoring children's acquisition of developmental milestones is integral to pediatric practice. Though pediatricians are responsible for evaluating children's development, parents have a crucial role in addressing delays as early as possible, where early detection of developmental delay can help in early intervention and ultimately potentiate a child's cognitive and social abilities toward an independent life. This study assesses parental knowledge of the warning signs denoting delayed developmental milestone acquisition, in addition to analyzing demographic variables that may influence their level of knowledge. Methods This cross-sectional study included 376 parents of children attending pediatric clinics in National Guard Health Affairs- King Abdulaziz Medical City, in Jeddah, Saudi Arabia. A two-section structured questionnaire was utilized. It included 16 option-based questions with one correct answer, while the other options were either an under or overestimate of the age at which the child should acquire a particularly significant milestone development across different domains. A score of 10 out of 16 was chosen as the minimum to show the appropriate level of knowledge. Results Most participants (n=282; 75%) were women, and 174 (46.27%) were between 29 and 39 years old. The highest reported level of education was college or higher (n=214; 56.91%). Only 41 (11%) parents had the required level of knowledge, while the remaining 335 (89%) fell short of meeting the passing level (mean 6.59, SD= 2.72). The motor domain had the highest level of accuracy, followed closely behind the cognitive domain. The language and social domains exhibited lower levels of accuracy. Conclusions Despite the majority of parents in this group possessing a college education and availing multiple health resources, there is a significant gap in their knowledge of typical trajectories of development milestones. Thus, there is a need for a nationwide initiative to promote the parent's proactive role in monitoring their children's growth.

Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy.

Joubert syndrome (OMIM:609863) is a hereditary disorder characterized by hypotonia, developmental delay, and a distinctive cerebellar and brain stem malformation known as the molar tooth sign. Variants in tectonic genes TCTN1-3 have been described in a few patients with Joubert syndrome. Furthermore, Joubert syndrome attributed to variants in the TCTN1 (NM_001082538.2) gene has been only described in two reports. This report expands the clinical variability and molecular characterization of an emerging novel causative gene for Joubert syndrome in a Saudi boy born to non-consanguineous marriage with a c.1418del p.(Pro473Leufs*42) and c.800A > G p.(Tyr267Cys) representing a novel compound heterozygous variant of the TCTN1 gene identified by whole-exome sequencing and confirmed by Sanger sequencing. This is the first report of compound heterozygous Joubert syndrome type 13 from Saudi Arabia.

Perception of pain during electromyography in children: A prospective study.

INTRODUCTION: Electrodiagnostic examination is perceived as a painful examination. An accurate assessment of its discomfort would be valuable to children, their parents, and clinicians. METHODS: We performed a prospective study of pediatric patients seen over 3 months at 1 center. Pain was scored for both nerve conduction studies and needle electromyography (EMG) on validated scales, depending on the child's age and in comparison with venipuncture. RESULTS: In 100 cases the pain recorded fell within the moderate range on the scoring systems used. Sixty-six percent of patients described the pain to be equivalent or less than that with venipuncture. EMG of > 1 muscle or a proximal muscle produced more pain in patients <4 years of age. CONCLUSIONS: When discussing the test with patients, the physician should reassure the patient and parents regarding the degree of pain that may be encountered, which is not materially different from venipuncture. Muscle Nerve 54: 422-426, 2016.

Type III spinal muscular atrophy mimicking muscular dystrophies.

Types III and IV spinal muscular atrophy represent a diagnostic challenge due to the great variability in their presentation. We report a series of eight patients with type III spinal muscular atrophy who were followed for a long time for possible muscular dystrophy or myopathy, confirming its clinical heterogeneity and propensity to delayed diagnosis. Clinical examination revealed heterogeneous findings, where the diagnosis of type III spinal muscular atrophy was not immediately apparent in many patients as their clinical and laboratory abnormalities were consistent with muscular dystrophy or myopathy. The presence of dystrophic features such as hypertrophy of the calves, weakness of the limb girdle, high serum creatine kinase levels, and myopathic histopathology should not divert attention from the possibility of spinal muscular atrophy. It is strongly recommended to give variable presentations enough thought and to consider the autosomal recessive type III spinal muscular atrophy in the diagnostic evaluation.