Sunil Karande

A girl in the early adolescent age group presented with multisystem manifestations in the form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the chest and gangrene over the left ring and middle fingertips. Her condition had remained undiagnosed for 11 years. On evaluation, she had features of polyarteritis nodosa (PAN) (multiple aneurysms, symmetric sensorimotor peripheral neuropathy, superficial ulcers, digital necrosis, myalgia, hypertension and proteinuria). As childhood PAN is a phenocopy of adenosine deaminase 2 with a different management strategy, whole-exome sequencing was performed, which revealed a pathogenic variant in ADA2 gene. The child was treated with TNF alpha inhibitors and showed improvement in the Paediatric Vasculitis Activity Score. The paper highlights the gratifying consequences of correct diagnosis with disease-specific therapy that ended the diagnostic odyssey, providing relief to the patient from debilitating symptoms and to the family from the financial burden of continued out-of-pocket health expenditure.

This retrospective study analyzed the quality of 1069 referral letters written by school principals to our learning disability clinic. Utilizing a self-devised checklist having four domains (with 26 items), the audit revealed that in only nine (34.6%) items, the necessary information was available in >90% of referral letters.

This retrospective study analyzed the concordance level between clinical and autopsy diagnosis of heart diseases over six years. Utilizing the Goldmann classification, the concordance rate was found to be 38.1%. Major discrepancies (Class I and II) were found in 39% cases and minor (Class III and IV) in 22.9% cases.

Background and Objectives: Students with borderline intellectual functioning (“slow learners”) underperform in all school subjects. The primary objective of this study was to evaluate the self-perceived anxiety symptoms of slow learners. Its secondary objective was to analyze impact of sociodemographic variables on their symptoms. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the learning disability clinic of a public medical college in Mumbai. Subjects and Methods: One hundred slow learners aged ≥8 to P = 0.040), and, (ii) studying in a Secondary School Certificate or Higher Secondary Certificate educational board-affiliated school was significantly associated with having symptoms of “generalized anxiety,” “social anxiety,” and “overall anxiety” (P = 0.009, P = 0.026, and P = 0.046, respectively). Conclusions: Many slow learners in our city have symptoms of anxiety disorders and overall anxiety. There is an urgent need to screen them for anxiety disorders to facilitate their optimum rehabilitation.

Aims: The primary objective of the present study was to evaluate the economic burden of limited English proficiency (LEP) by estimating its direct, indirect, and intangible costs. A secondary objective was to assess the impact of variables on the economic burden. Design and Setting: A cross-sectional single-arm descriptive study conducted in a learning disability clinic in a public medical college in Mumbai. Subjects and Methods: The study cases (aged ≥8 years and ≤18 years) were recruited by non-probability sampling. A structured questionnaire was used to interview the parent to collect data related to direct and indirect costs. Intangible cost data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A multivariate regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs due to LEP were Indian Rupees (INR) 826,736, 3,828,220, and 1,906,300, respectively. Indirect costs comprised 82.2% of the total costs. Expenditure on tuition and remedial education comprised 39.86% and 14.08% of the indirect and direct costs, respectively. The average annual learning disability clinic costs were INR 2,169,146. The average annual total costs per student were INR 42,102. Higher socioeconomic status was predictive of increased “indirect costs”, “total costs”, and “intangible costs.” Conclusion: LEP is a cost-intensive condition (indirect > intangible > direct costs). Non-medical costs are the costliest component of direct costs. Parental loss of earnings is the costliest component of indirect costs.

Background and Objectives: Students with borderline intellectual functioning (“slow learners”) underperform in all school subjects. The primary objective of this study was to evaluate the parental-perceived health-related quality of life (HRQoL) of these students. Its secondary objective was to analyze the impact of sociodemographic variables on their HRQoL. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the learning disability clinic in a public medical college in Mumbai. Subjects and Methods: One hundred parents of slow learners aged 8 to 16 years were recruited by non-probability sampling. Their HRQoL scores were measured using the English DISABKIDS chronic generic module parent (proxy) long-version (“DCGM-37-P”) instrument. Statistical Analysis: Multiple regression analysis was carried out for determining the “independent” impact that sociodemographic variables had on a poor facet and total score outcomes. Results: Clinically significant deficits were detected in 4 facets, namely: small deficit in “social inclusion”; medium deficits in “independence”, “emotion”, and “social exclusion”; and large deficit in “total score”. Multivariate analysis revealed that: (i) being an only child predicted a poor “emotion” and “social exclusion” facet score outcomes (P = 0.039 and P = 0.024, respectively); (ii) being a female predicted a poor “social inclusion” facet score outcome (P = 0.022); and, (iii) studying in a single-gender school predicted a poor “limitation” facet score outcome (P = 0.020). Conclusions: Parents of slow learners perceive their psychosocial and total HRQoL to be significantly compromised. There is a need to evaluate the HRQoL of slow learners so that optimum rehabilitation can be facilitated.

Students with specific learning disabilities (SpLD) need timely remedial education and provisions to continue their education within the mainstream. The Government of India has enacted the Rights of Persons with Disabilities (RPwD) Act, 2016, and legitimized SpLD as a disability, nationally. This Act mandates screening of every school student for SpLD on completion of eight years of age, setting up of resource rooms for imparting remedial education in all schools, and provisions in examinations for all afflicted students. This Act authorizes that students with SpLD get benefit of reservations in higher education seats and government jobs. To ensure that this Act is implemented effectively, all stakeholders in the field of education and health will have to collaborate to set up sufficient number of assessment clinics, create sufficient number of special educators, and develop validated screening and assessment tools for diagnosing SpLD in all the regional languages of our country.

Background and Objectives: School students with specific learning disabilities (SpLDs) endure academic difficulties, anxiety, and social maladaptation. The primary objective of the present study was to evaluate the emotional intelligence (EI) abilities of these afflicted students. Its secondary objective was to analyze the impact of socio-demographic variables on their EI abilities. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the Learning Disability clinic in a public medical college in Mumbai. Subjects and Methods: SpLD students studying in class standards VII–IX were recruited by non-probability sampling. Their EI (overall, subscales, and settings) scores were measured using the Four EsScale of Emotional Intelligence-Adolescents (FESEI-A) questionnaire; and compared with Indian norm scores by utilizing the Mann - Whitney U test. To evaluate the unadjusted impact that each of the “variables” had on the FESEI-A scores, linear regression or the Mann-Whitney U test, or the Kruskal-Wallis test, was utilized as applicable. Results: SpLD students had similar “overall” EI abilities as their regular peers. Their EI scores in school setting were significantly lower (P = 0.001), but significantly higher in social setting (P = 0.005). At univariate level, presence of co-occurring attention-deficit/hyperactivity disorder was significantly associated with a lower “school setting” score (P = 0.040). Higher socioeconomic status was significantly associated with a higher “overall” score and “family setting” score (P = 0.023 and P = 0.041, respectively). Conclusions: There is an urgent need to evaluate the EI abilities of SpLD students to identify deficits so that optimum rehabilitation can be facilitated.

Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to cytomegalovirus infection at 2 months of age presented to our institute with developmental delay, fever, vomiting, feeding difficulty, breathlessness and features of elevated intracranial pressure due to hydrocephalus. Key examination findings with cholestatic jaundice as an early manifestation led to suspicion of type 4 Farber disease. Observation of hydrocephalus, hypertension, bilateral pinguecula and Erlenmeyer flask deformity of the femur were unusual findings for Farber disease. The child had few features (pinguecula, Erlenmeyer flask deformity and hydrocephalus) overlapping with Gaucher disease. Alternatively, prosaposin deficiency (Farber disease type 7) was another differential diagnosis. Diagnosis of Farber disease was confirmed by detection of foamy macrophages on skin biopsy and two homozygous missense variants in ASAH1 gene.

J Postgrad Med, Online version this peer-reviewed periodical, a publication of the Staff Society of Seth G. S. Medical College and K. E. M. Hospital, India, provides free full-text access to articles.