ABSTRACT
OBJECTIVES: To present the clinical picture, the associated complications and the genetic findings of Jordanian patients diagnosed with Congenital insensitivity to pain with anhidrosis (CIPA). PATIENTS AND METHODS: This is a retrospective study including 7 patients diagnosed with CIPA presenting to Jordan University Hospital neurology clinic between 2001 and 2017. RESULTS: Among five families, seven patients were diagnose with CIPA and followed for a period ranging from one month to 6 years. The initial symptom observed in all patients was high fever in the first few days after birth, decreased sensation to pain and decreased sweating were later noted. Poor weight gain, microcephaly and global developmental delay were present in most cases. All patients had tongue ulcerations. Fingers/toes ulcerations were present in 6/7 (86.0 %), hip joint dislocation in 3/7 (43.0 %), chronic arthritis and joint swelling in 6/7 (86.0 %), corneal ulcers in 4/7 (57.1 %) and kidney amyloidosis in 1/7 (13.0 %) of all patients. Death occurred in 4/7 (57.1 %) patients. Consanguinity was present in all families. Mutation analysis revealed three variants in NTRK1 gene. The frameshift (c.1860_1861insT; p.Pro621fs) mutation was common in our series. One patient carried a novel missense mutation (c.2170 G > A; p.Gly724Ser). The third missense mutation (C2125 G > T; p.Val709Leu) was reported in a previous study in one patient. CONCLUSION: This cohort reveals a severe CIPA phenotype necessitating thorough multidisciplinary care and follow up.
Subject(s)
Arthritis/physiopathology , Corneal Ulcer/physiopathology , Developmental Disabilities/physiopathology , Hereditary Sensory and Autonomic Neuropathies/physiopathology , Hip Dislocation, Congenital/physiopathology , Microcephaly/physiopathology , Receptor, trkA/genetics , Skin Ulcer/physiopathology , Adolescent , Body-Weight Trajectory , Child , Child, Preschool , Female , Fingers , Frameshift Mutation , Hereditary Sensory and Autonomic Neuropathies/genetics , Humans , Infant , Infant, Newborn , Jordan , Male , Mutation , Mutation, Missense , Pedigree , Retrospective Studies , Toes , Tongue Diseases/physiopathology , Ulcer/physiopathology , Young AdultABSTRACT
PURPOSE: To explore the knowledge, attitudes and behaviors of parents whose children were diagnosed with epilepsy. METHODS: Cross-sectional questionnaire based study of parents who accompanied their children with epilepsy to the child neurology clinics at three university hospitals in Jordan. RESULTS: Most parents (427, 90.3%) knew that epilepsy is not related to a psychiatric disease. Approximately half of the parents (245, 51.8%) used the internet as their source of knowledge, and most used Arabic websites. Searching the word epilepsy was rarely used (51, 10.8%). Most of the parents (428,90.5%) were not restricting their children from watching TV or from using the computer (358,75.5%).However, many parents (280,59.2%) were restricting them from participating in sports. Parents had negative attitudes towards epilepsy; 189 (40.0%)thought that epileptic children can have normal intelligence, and 292 (61.7%) thought that they can continue into higher education. Greater parental knowledge of epilepsy was found to be correlated with the parental education level (p<0.05).Positive attitudes and behaviors towards epilepsy were found to be correlated with a higher parental education level, control of epilepsy,an absence of associated co morbidities, a higher income and internet use (p<0.05). CONCLUSION: This study sheds an important light on the current knowledge status and attitudes of parents of children with epilepsy, and is an invaluable tool for tailoring the delivery of information and support resources for families in our region.
