Objective: To explore the diagnostic features and inheritance patterns of spinal muscular atrophy (SMA) in children at three tertiary care public hospitals. Study Design: Retrospective study. Setting: HITEC Institute of Medical Sciences Taxila Cantt. Period: January 2022 to March 2022. Material & Methods: A retrospective review of the medical records of the past ten years from January 2011 to December 2020 of three tertiary care public hospitals was conducted. Socio-demographic characteristics, consanguinity, and diagnostic features (including genetic investigation) were also considered. Results: A total of 70 children were diagnosed with SMA during the research study period and the most prevalent variation found among them was Werdnig Hoffmanver illness (SMA type I), affecting 40-57 percent of the children. The study found that 67 percent of the research group showed a high level of paternal consanguinity. The deletion of a gene, survival motor neuron (SMN1) was discovered in 21 (88%) genetically tested children out of 24, while 17 (71%) genetically studied patients were found to be positive for the deletion of specific apoptotic proteins called neuronal apoptosis inhibitory proteins (NAIP). Conclusion: In our study, SMA type 1 is the most prevalent. This piece of literature emphasizes the importance of antenatal detection and the need to increase awareness among high-risk societies with prevalent consanguineous marriages like Pakistan to lessen the disease load.

Background: Newborn skin undergo various stages of developmental changes after birth in order to adapt to challenging conditions of extrauterine life. Many dermatoses though appearing challenging could actually be momentary or physiological undergoing rapid involution, therefore, a vital knowledge of neonatal skin biology is essential for all dermatologists. Aim: To study the clinical pattern of various dermatoses in neonates and their diagnostic value. Study design: Descriptive cross sectional study Place and duration of study: Department of Paediatrics, HIT Hospital Taxila from 1st April 2021 to 30th September 2021. Methodology: One hundred neonates within first 72 hours of life regardless of gestational age, sex and mode of delivery were selected. Neonates kept in intensive care unit were not included, as the chances of infection and sepsis are more in them. A detailed history was taken. Dermatological examination of all the neonates was done thoroughly in broad day light to accurately define the morphology of skin lesions. In all instances, the diagnosis of skin lesion was exclusively based upon the clinical impression. Results: There were 42 (42%) males and 58 (58%) females. 74% were full term and 26% were preterm,79% had normal birth weight (2.5-3.5 kg) and 21% had low birth weight (<2.5kg). Cutaneous findings were positive in 87 (87%). 79% had normal physiological cutaneous manifestations and transient skin changes and only 8% had pathological skin changes. Conclusion: Majority of the skin manifestation within 72 hours after birth are either physiological or benign that last for sometimes. Key words: Neonate, Skin manifestations, Prevalence

Objective: The study aims to ascertain the degree of felt stress among parents of cerebral palsy patients at HIT and POF Hospitals. Study Design: Cross-sectional. Setting: Department of Pediatrics, HIT & POF Hospitals. Period: February 2022 to May 2022. Material & Methods: The study was approved by IRB of HITEC-IMS under approval number HITEC-IRB-22-2021. Using the purposive sampling method, the study included CP children aged 3 to 10 and caregivers who had experienced stress for three consecutive months. The total score was determined using Sheldon Cohen's perceived stress scale. Scores between 0 and 13 were classified as low perceived stress, 14 to 26 as moderate, and 27 to 40 as high felt stress. Results: Children with the spastic form of CP made up 50% of the population, while those with the dyskinetic ataxic and mix types made up 16%, 8%, and 5% of the total. 66 percent of the children were under 5, 22 percent were between the ages of 6 and 10, and just 12 percent were under 3. With level 4 on the second, the GMFCS level of 3 was the most prevalent. The parents’ average age was 31±7.2. Respondents' average stress score was 18.03±8.8. Conclusion: Parents of CP children experience moderate to high levels of stress that are significantly influenced by the employment status of moms and family income. Parents must be stress-free in order to raise children with poor health.