Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of single gene disorders with distinguished clinical phenotypes and definitive imaging findings. Beta propeller protein-associated neurodegeneration (BPAN) is a subentity of NBIA with X linked dominant inheritance. In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for ß propeller protein. This is the first genetically proven case from India. BPAN is an underrecognized disorder and must be considered as a differential diagnosis in children with atypical Rett features and should be enlisted among the causes for autistic regression and intracranial calcification. Pediatricians must be aware of this rare entity for establishing early diagnosis, prognostication, and genetic counseling. Treatment is usually supportive. More research is needed to explore drugs in the management of BPAN that can facilitate the autophagy and promotes cytoprotection.

Cushing's syndrome presenting as treatment-resistant bipolar affective disorder: A step in understanding endocrine etiology of mood disorders.

Cushing's syndrome (CS) is the multisystem disorder which is due to cortisol excess. It is very difficult to diagnose in early stages, especially when psychiatric manifestations are the predominant complaints. It could result in significant morbidity and mortality. We report a case of resistant bipolar affective disorder secondary to CS. Early diagnosis and treatment will lead to better functional outcome and prevention of neurocognitive side-effects of excessive cortisol.

Comparison of the Diagnostic Accuracy and Validity of a Short Version of Teen Screen Questionnaire-Mental Health (TSQ -M-Short) for Use in Community.

BACKGROUND: A few self-administered questionnaires are available for assessing mental health among adolescents in primary-care settings. Brief measures are desirable for use in big-data, epidemiological studies. OBJECTIVES: To evaluate a 7-item version, of the Teen Screen Questionnaire-Mental Health (TSQ-M), the TSQ-M-Short. MATERIALS AND METHODS: In this prospective cross-sectional study of 140 adolescents, recruited from 6 rural or urban schools, the newly developed TSQ-M-Short as the measure for validation and General Health Questionnaire-12 item (GHQ-12) as the gold standard measure were administered by independent trained raters. Tests for diagnostic accuracy and validity were conducted. RESULTS: A total TSQ-M-Short score of ≥ 6 had a sensitivity of 76%, specificity of 74%, positive likelihood ratio of 2.99, negative likelihood ratio of 0.33, positive predictive value of 6% and a negative predictive value of 82.1%. The area under curve (AUC) in the Receiver Operating Characteristic (ROC) for the TSQ-M-Short version was 0.84 (95% cumulative incidence (CI) = 0.76-0.89). The AUC for the TSQ-M-Short version was higher than the AUC for the original version, and the difference between the areas was 0.10 (95% CI = 0.02-0.19), which was statistically significant (z = 2.49; P = 0.01). The internal consistency of TSQ-M-Short, as measured by chronbach's α, was 0.34 (95% CI = 0.15-0.48). The construct validity demonstrated a 3-factor structure, which explained 55% of the variance. CONCLUSION: The TSQ-M-Short has an overall diagnostic accuracy which is better than the original TSQ-M. Although the original version includes symptoms for more mental health disorders, providing a wider screen. This short version will prove useful in big-data studies.

The diagnostic accuracy and validity of the teen screen questionnaire-mental health for clinical and epidemiological studies in primary-care settings.

BACKGROUND: To validate a brief, self-reported, Teen Symptom Questionnaire-Mental Health (TSQ-M), for identifying adolescents with mental ill-health, designed for conducting epidemiological studies and clinical work in primary-care settings. MATERIALS AND METHODS: In this prospective, cross-sectional study of 146 adolescents, re-cruited six rural and urban schools, the newly developed TSQ-M as the measure for validation and General Health Questionnaire-12 item (GHQ-12) as the gold standard measure were administered by independent trained raters. Tests for diagnostic accuracy and validity were conducted. RESULTS: A TSQ-M score of ≥29 (Sn=75.68%, Sp=68.06, +LR=2.37, -LR=0.36, PPV=70.9, NPV=73.1) with the AUC of 0.79, is suggested for screening use in Indian populations. Besides the adequate face and content validity, TSQ-M has moderate internal consistency (Cronbach's α = .64) suggesting that the construct of mental ill-health as conceptualized by TSQ-M has multiple sub-constructs. The presence of sub-constructs was demonstrated by an 8- factor structure, which explained 60% of variance. CONCLUSION: The TSQ-M is a psychometrically adequate, yet a brief measure, for clinical and research work in identifying mental ill-health among adolescents in primary-care settings in India.