BackgroundThe prevalence of autism is growing worldwide. Owing to parents being the primary caregivers in most situations, their ability to recognize the signs and symptoms of autism and respond appropriately is of paramount importance in aiming to provide the best healthcare to autistic individuals. This study was conducted with the aim of ascertaining the parent’s knowledge and awareness of autism.MethodsA cross-sectional survey was conducted among parents residing in Karachi, Pakistan. We excluded any individuals belonging to the medical profession, those who have autistic children, and those who couldn’t completely comprehend English and Urdu. A sample size of 339 parents was selected. A validated and pre-tested questionnaire was administered among the study participants to record demographic information, knowledge, and perceptions regarding autism and its signs and symptoms. Data were analyzed using Statistical Package for Social Sciences (SPSS version 23.0, IBM Corp., Armonk, NY, US). A knowledge score was calculated for opinions about autism and its sign and symptoms individually to reflect a participant’s overall knowledge regarding autism.ResultsFrom our study population, 75% of our population had heard of autism, with those who knew of someone with the disorder displaying greater awareness. However, our participants displayed poor knowledge scores, with a mean score of 5.59 in the section concerning correct opinions on autism and that of 6.84 in the section testing knowledge of signs and symptoms. Despite this, 95.6% of the participants were willing to get their children treated, in the event of them being diagnosed with autism.ConclusionUnfortunately, our population displayed a lack of awareness and knowledge regarding autism. To fill this gap, awareness programs should be conducted to promote parent’s knowledge regarding autism, so as to allow for early diagnoses and an appropriate treatment plan/therapy. On a positive note, most were willing to get their children tested and treated in case of a diagnosis. However, only a small number of participants knew of autism centers in Karachi. General practitioners are needed to play a key role in counseling parents about autism.
Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease, part of the spectrum of motor neuron diseases. This disease is divided on the bases of heritability, with majority of the cases being sporadic and phenotype, with eight recognized patterns-each with its respective symptoms, rate of progression, and prognosis. Here, we report a case of sporadic, bulbar-onset ALS, unique in its presentation as our patient had fully progressed bulbar symptoms, at the age of 28 years-where other cases of bulbar ALS are associated with much older ages and have a predisposition for the female gender. His prominent and elaborate tongue fasciculations going all the way down to the neck and rendering him incapable of holding his tongue out made for an additional reason of our special interest in the case and the keenness to report it.
Langerhans cell histiocytosis (LCH) is a rare, clonal disease of the monocyte-macrophage system, varying in its clinical presentation from mere self-healing skin and bone lesions to life-threatening multi-system disease. In descending order of frequency, the disease is known to involve the skeleton, skin, lymph nodes and lesser often, the liver, spleen, lungs, hematopoietic and central nervous systems. Here, we present a pediatric case of multi-system LCH in a five-year-old child, unique in its evident cardiac and renal involvement alongside other organ systems and important in how the diagnosis was aided by a fine needle aspiration cytology instead of the costlier histopathological procedures, in a setting with limited resources.
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