Pediatrics Commons^™

Body Composition At Birth And Its Relationship With Neonatal Anthropometric Ratios: The Newborn Body Composition Study Of The Intergrowth-21st Project, José Villar, Fabien A. Puglia, Tanis R. Fenton, Leila Cheikh Ismail, Eleonora Staines-Urias, Francesca Giuliani, Eric O. Ohuma, Cesar G. Victora, Peter Sullivan, Fernando C. Barros, Ann Lambert, Aris T. Papageorghiou, R. Ochieng, Yasmin A. Jaffer, Douglas G. Altman, Alison J. Noble, Michael G. Gravett, Manorama Purwar, Ruyan Pang, Ricardo Uauy, Stephen H. Kennedy, Zulfiqar A. Bhutta

Paediatrics and Child Health, East Africa

Background: We aimed to describe newborn body composition and identify which anthropometric ratio (weight/length; BMI; or ponderal index, PI) best predicts fat mass (FM) and fat-free mass (FFM).

Methods: Air-displacement plethysmography (PEA POD) was used to estimate FM, FFM, and body fat percentage (BF%). Associations between FFM, FM, and BF% and weight/length, BMI, and PI were evaluated in 1,019 newborns using multivariate regression analysis. Charts for FM, FFM, and BF% were generated using a prescriptive subsample (n = 247). Standards for the best-predicting anthropometric ratio were calculated utilizing the same population used for the INTERGROWTH-21st Newborn Size Standards (n = …

How Canada Can Help Global Adolescent Health Mature, Ashley Vandermorris, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: There is an emerging focus on adolescent health within the global health community as we come to recognize that the adolescent years are formative in determining health and health-related behaviours across the life-course. Such attention is not only relevant on the global scale but is imperative in Canada as well.

Main body: This commentary provides a brief review of recent investments targeting global adolescent health and presents five potential avenues for action which emerged out of the recent Canadian Partnership for Women and Children’s Health (CanWaCH) Global Adolescent Health conference. These avenues are: (1) Demand data; (2) Embrace complexity; …

Effect Of Provision Of Home-Based Curative Health Services By Public Sector Health-Care Providers On Neonatal Survival: A Community-Based Cluster-Randomised Trial In Rural Pakistan, Sajid Bashir Soofi, Simon Cousens, Ali Turab, Yaqub Wasan, Shah Mohammed, Shabina Arif, Zaid Ahmad Bhatti, Imran Ahmed, Steve Wall, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background : Although the effectiveness of community mobilisation and promotive care delivered by community health workers in reducing perinatal and neonatal mortality is well established, evidence in support of home-based neonatal resuscitation and infection management is mixed. We assessed the effectiveness of adding training in neonatal bag and mask resuscitation and oral antibiotic therapy for suspected neonatal infections to a basic preventive and promotive interventions package delivered by public sector community-based lady health workers (LHWs) in rural Pakistan.

Methods: We did a cluster-randomised controlled trial in two subdistricts of Naushahro Feroze in rural Sindh, Pakistan, between April 15, 2009, …

Gamma Power In Pakistani Children: Links To Executive Function And Verbal Ability, Amanda R. Tarullo, Jelena Obradovic, Brandon Keehn, Muneera Rasheed, Saima Siyal, Charles A. Nelson, Aisha K. Yousafzai

Department of Paediatrics and Child Health

Children in low- and middle-income countries are at high risk of cognitive deficits due to environmental deprivation that compromises brain development. Despite the high prevalence of unrealized cognitive potential, very little is known about neural correlates of cognition in this population. We assessed resting EEG power and cognitive ability in 105 highly disadvantaged 48-month-old children in rural Pakistan. An increase in EEG power in gamma frequency bands (21-30Hz and 31-45Hz) was associated with better executive function. For girls, EEG gamma power also related to higher verbal IQ. This study identifies EEG gamma power as a neural marker of cognitive function …

Prevalence Of Cytotoxin Associated Gene-A Positive Strains In Children With Symptomatic H. Pylori Infection, Patricia Mumbi Muriithi

Master of Medicine in Paediatrics and Child Health

Introduction: Helicobacter pylori is a common bacterial infection in humans with early acquisition in childhood. It is adapted to the gastric environment and has been associated with chronic active gastritis, peptic ulcers, atrophic gastritis, gastric adenocarcinoma and mucosa associated lymphoid tissue (MALT) lymphoma. H. pylori strains bearing the Cytotoxin Associated Gene-A (CagA) gene have enhanced pathogenicity and have been strongly linked with increased risk for gastric carcinoma in adulthood. Objectives: The primary objective was to determine the prevalence of CagA positive strains in children with H. pylori infection. The secondary objectives were to compare CagA status and endoscopy findings and …

Experience With The Quantitative Lyta Gene Real-Time Polymerase Chain Reaction For The Detection Of Streptococcus Pneumoniae From Pediatric Whole Blood In Pakistan, Furqan Kabir, Sahrish Muneer, Adil Kalam, Ana Sami, Shahida Qureshi, Aneeta Hotwani, Atif Riaz, Syed Mohiuddin, Mohammad Tahir Yousafzai, Sara Hussain, Syed Asad Ali, Sadia Shakoor

Department of Paediatrics and Child Health

Background: We present our experience with optimization and diagnostic use of quantitative real-time polymerase chain reaction (PCR) targeting the lytA gene of Streptococcus pneumoniae for the detection of S. pneumoniae in whole blood of children ≥5 CFU/10 μl or 1 copy of DNA/2 μl of blood.
Methods: This assay was applied on 1912 whole blood specimens collected from children pneumonia, of which 35 specimens were lytA positive. The bacterial loads were determined through categorization of load into five different categories, i.e., very high load, high load, moderate load, low load, and very low load.
Results: Of the 35 lytA-positive …

Rsv Associated Hospitalizations In Children In Karachi, Pakistan: Implications For Vaccine Prevention Strategies, Syed Asad Ali, Mohammad Tahir Yousafzai, Rabbia Waris, Fatima Jafri, Fatima Aziz, Imran Naeem Abbasi, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Major progress is being made in vaccines against Respiratory Syncytial Virus (RSV), with multiple vaccine candidates currently in the clinical phase of development. Making an investment case for public sector financing of RSV vaccine will require estimation of burden, cost-effectiveness, and impact. The aim of this study is to determine the proportion, age distribution and clinical spectrum of RSV associated hospitalizations in children in Karachi, Pakistan. A three years prospective study was conducted at the Aga Khan University Hospital in Karachi, a city of 20 million in south Pakistan, from August 2009 to June 2012. Children less than five years …

Age And Sex Normalization Of Intestinal Permeability Measures For The Improved Assessment Of Enteropathy In Infancy And Early Childhood: Results From The Mal-Ed Study, Margaret N. Kosek, Gwenyth O. Lee, Richard L. Guerrant, Rashidul Haque, Gagandeep Kang, Tahmeed Ahmed, Pascal Bessong, Syed Asad Ali, Shahida Qureshi, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Objectives: The aim of the study was to describe changes in intestinal permeability in early childhood in diverse epidemiologic settings.
Methods: In a birth cohort study, the lactulose:mannitol (L:M) test was administered to 1980 children at 4 time points in the first 24 months of life in 8 countries. Data from the Brazil site with an incidence of diarrhea similar to that seen in the United States and no growth faltering was used as an internal study reference to derive age- and sex-specific z scores for mannitol and lactulose recoveries and the L:M ratio.
Results: A total of 6602 tests …

Case-Control Vaccine Effectiveness Studies: Data Collection, Analysis And Reporting Results, Jennifer R. Verani, Abdullah H. Baqui, Claire V. Broome, Thomas Cherian, Cheryl Cohen, Jennifer L. Farrar, Daniel R. Feikin, Michelle J. Groome, Rana A. Hajjeh, Anita K. M. Zaidi

Department of Paediatrics and Child Health

The case-control methodology is frequently used to evaluate vaccine effectiveness post-licensure. The results of such studies provide important insight into the level of protection afforded by vaccines in a 'real world' context, and are commonly used to guide vaccine policy decisions. However, the potential for bias and confounding are important limitations to this method, and the results of a poorly conducted or incorrectly interpreted case-control study can mislead policies. In 2012, a group of experts met to review recent experience with case-control studies evaluating vaccine effectiveness; we summarize the recommendations of that group regarding best practices for data collection, analysis, …

Comprehensive Review Of The Evidence Regarding The Effectiveness Of Community-Based Primary Health Care In Improving Maternal, Neonatal And Child Health: 8. Summary And Recommendations Of The Expert Panel, Robert E. Black, Carl E. Taylor, Shobha Arole, Abhay Bang, Zulfiqar Ahmed Bhutta, A Mushtaque R. Chowdhury, Betty R. Kirkwood, Nazo Kureshy, Claudio F. Lanata, James F. Phillips

Department of Paediatrics and Child Health

Background: The contributions that community-based primary health care (CBPHC) and engaging with communities as valued partners can make to the improvement of maternal, neonatal and child health (MNCH) is not widely appreciated. This unfortunate reality is one of the reasons why so few priority countries failed to achieve the health-related Millennium Development Goals by 2015. This article provides a summary of a series of articles about the effectiveness of CBPHC in improving MNCH and offers recommendations from an Expert Panel for strengthening CBPHC that were formulated in 2008 and have been updated on the basis of more recent evidence.
Methods: …

Setting Health Research Priorities Using The Chnri Method: Vii. A Review Of The First 50 Applications Of The Chnri Method, Igor Rudan, Sachiyo Yoshida, Kit Yee Chan, Devi Sridhar, Kerri Wazny, Harish Nair, Aziz Sheikh, Mark Tomlinson, Joy E. Lawn, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Several recent reviews of the methods used to set research priorities have identified the CHNRI method (acronym derived from the "Child Health and Nutrition Research Initiative") as an approach that clearly became popular and widely used over the past decade. In this paper we review the first 50 examples of application of the CHNRI method, published between 2007 and 2016, and summarize the most important messages that emerged from those experiences.
Methods: We conducted a literature review to identify the first 50 examples of application of the CHNRI method in chronological order. We searched Google Scholar, PubMed and so-called …

Prioritizing Research For Integrated Implementation Of Early Childhood Development And Maternal, Newborn, Child And Adolescent Health And Nutrition Platforms, Renee Sharma, Michelle F. Gaffey, Harold Alderman, Diego G. Bassani, Kimber Bogard, Gary L. Darmstadt, Jai K. Das, Joseph E De Graft–Johnson, Jena D. Hamadani, Susan Horton

Department of Paediatrics and Child Health

Background: Existing health and nutrition services present potential platforms for scaling up delivery of early childhood development (ECD) interventions within sensitive windows across the life course, especially in the first 1000 days from conception to age 2 years. However, there is insufficient knowledge on how to optimize implementation for such strategies in an integrated manner. In light of this knowledge gap, we aimed to systematically identify a set of integrated implementation research priorities for health, nutrition and early child development within the 2015 to 2030 timeframe of the Sustainable Development Goals (SDGs).
Methods: We applied the Child Health and Nutrition …

Determinants And Impact Of Giardia Infection In The First 2 Years Of Life In The Mal-Ed Birth Cohort, Elizabeth T. Rogawski, Luther A. Bartelt, James A. Platts-Mills, Jessica C. Seidman, Amidou Samie, Alexandre Havt, Sudhir Babji, Shahida Qureshi, Sadia Shakoor, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Giardia are among the most common enteropathogens detected in children in low-resource settings. We describe here the epidemiology of infection with Giardia in the first 2 years of life in the Etiology, Risk Factors, and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development Project (MAL-ED), a multisite birth-cohort study.
Methods: From 2089 children, 34916 stool samples collected during monthly surveillance and episodes of diarrhea were tested for Giardia using an enzyme immunoassay. We quantified the risk of Giardia detection, identified risk factors, and assessed the associations with micronutrients, markers of gut inflammation and …

Implementation Of Ventilator Bundle In Pediatric Intensive Care Unit Of A Developing Country, Anwar Ul Haque, Quratulain Riaz, Syed Asad Ali

Department of Paediatrics and Child Health

The aim of this study was to assess the frequency of VAP(ventilator associated pneumonia) after strict implementation of ventilator bundle in PICU. Medical records of all children (age 1 month - 16 years) were retrospectively reviewed, who were on mechanical ventilation (MV) for more than 48 hours and received all key components of "ventilator bundle" from January 2012 to December 2014. Out of 1050, 565 (54%) patients were enrolled. The mean age was 4.02 SD 4.29 years and 62 (69%) were male. The indications of MV were respiratory illness (54%), neurological illness (31%), shock (9%), and postoperative care (6%). The …

Comparison Of Enteral Versus Intravenous Potassium Supplementation In Hypokalaemia In Paediatric Patients In Intensive Care Post Cardiac Surgery: Open-Label Randomised Equivalence Trial (Eips), Naveed Ur Rehman Siddiqui, Quratulain Merchant, Babar Hasan, Arjumand Rizvi, Muneer Amanullah, Amina Rehmat, Anwarul Haque

Department of Paediatrics and Child Health

Objectives: The primary objective was to compare the efficacy of enteral potassium replacement (EPR) and intravenous potassium replacement (IVPR) as first-line therapy. Secondary objectives included comparison of adverse effects and number of doses required to resolve the episode of hypokalaemia.
Trial design: The EIPS trial is designed as a randomised, equivalence trial between two treatment arms.
Study setting: The study was conducted at the paediatric cardiac intensive care unit (PCICU) at Aga Khan University Hospital, Karachi.
Participants: 41 patients (aged 1 month to 15years) who were admitted to PCICU post cardiac surgery were recruited (23 IVPR arm and 18 …

Multidisciplinary Approach To The Prenatal Diagnosis And Post Natal Management Of A Large Suprasellar Arachnoid Cyst: A Case Report, Omar Irfan, Heera Nand Rathore, Sarfraz Karim, Shabina Ariff, Aneela Darbar

Medical College Documents

Arachnoid cysts are intra-arachnoid sacs filled with cerebrospinal fluid representing a rare occurence in neonates. We report the case of a suprasellar arachnoid cyst diagnosed prenatally at 21 weeks gestation on routine obstetric ultrasound. A cystic lesion was picked up incidentally at routine antenatal scan. The cyst was noted to be increasing in size over a series of radiological scans. The cyst was diagnosed as a suprasellar arachnoid cyst compressing the third ventricle and bilateral lateral ventricles. A left pteryonal craniotomy for cystocisternostomy of large suprasellar cyst was performed initially. Within a month the cyst recurred with clinical and radiological …

Comparison Of Enteral Versus Intravenous Potassium Supplementation In Hypokalaemia In Paediatric Patients In Intensive Care Post Cardiac Surgery: Open-Label Randomised Equivalence Trial (Eips), Naveed Ur Rehman Siddiqui, Quratulain Merchant, Babar Hasan, Arjumand Rizvi, Muneer M Amanullah, Amina Rehmat, Anwarul Haque

Department of Surgery Docs

Objectives: The primary objective was to compare the efficacy of enteral potassium replacement (EPR) and intravenous potassium replacement (IVPR) as first-line therapy. Secondary objectives included comparison of adverse effects and number of doses required to resolve the episode of hypokalaemia.|
Trial design: The EIPS trial is designed as a randomised, equivalence trial between two treatment arms.
Study setting: The study was conducted at the paediatric cardiac intensive care unit (PCICU) at Aga Khan University Hospital, Karachi.
Participants: 41 patients (aged 1 month to 15years) who were admitted to PCICU post cardiac surgery were recruited (23 IVPR arm and 18 …

On The Brink Of Conflict: The People Of South Asia Deserve Better, Zulfiqar Ahmed Bhutta, Samiran Nundy

Department of Paediatrics and Child Health

No abstract provided.

Progress In Maternal And Child Health: How Has South Asia Fared?, Nadia Akseer, Mahdis Kamali, Shams E. Arifeen, Ashar Muhammad Malik, Zaid Ahmad Bhatti, Naveen Thacker, Mahesh Maksey, Harendra D’Silva, Inacio Cm Da Silva, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

No abstract provided.

Impact Of Maternal Respiratory Infections On Low Birth Weight - A Community Based Longitudinal Study In An Urban Setting In Pakistan, Asad Ali, Umber Zaman, Sadia Mahmud, Gul-E-Shehwar Zahid, Momin Kazi, William A. Petri, Zulfiqar Bhutta, Anita Zaidi, Molly A. Hughes

Department of Paediatrics and Child Health

Background: The health of mothers and their newborns is intricately related. The weight of the infant at birth is a powerful predictor of infant growth and survival, and is considered to be partly dependent on maternal health and nutrition during pregnancy. We conducted a longitudinal study in an urban community within Karachi to determine maternal predictors of newborn birth weight.Methods: Four hundred pregnant women were enrolled in the study during the period 2011-2013. Data related to symptoms of acute respiratory illness (fever, cough, difficulty breathing, runny nose, sore throat, headache, chills, and myalgia/lethargy) in the pregnant women were collected weekly …

Causal Pathways From Enteropathogens To Environmental Enteropathy: Findings From The Mal-Ed Birth Cohort Study, Margaret N. Kosek, Zulfiqar Ahmed Bhutta, Anita K. M. Zaidi, Imran Ahmed, Syed Asad Ali, Muneera Rasheed, Sajid Bashir Soofi, Ali Turab, Didar Alam, Shahida Qureshi

Department of Paediatrics and Child Health

Background: Environmental enteropathy (EE), the adverse impact of frequent and numerous enteric infections on the gut resulting in a state of persistent immune activation and altered permeability, has been proposed as a key determinant of growth failure in children in low- and middle-income populations. A theory-driven systems model to critically evaluate pathways through which enteropathogens, gut permeability, and intestinal and systemic inflammation affect child growth was conducted within the framework of the Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) birth cohort study that included children from eight countries. …

The Role Of Mobile Phone-Based Interventions To Improve Routine Childhood Immunisation Coverage, Abdul Momin Kazi

Department of Paediatrics and Child Health

No abstract provided.

Selective Screening For Organic Acidurias And Amino Acidopathies In Pakistani Children, Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze

Department of Pathology and Laboratory Medicine

Objective: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years.
Study Design: Retrospective Observational study.
Place and Duration of Study: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014.
Methodology: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded. Amino acids and organic acids were analyzed on high performance liquid chromatography and gas chromatography-mass spectrometry respectively. Clinical data and chromatograms of patients screened for IMDs were reviewed by chemical pathologist and metabolic physician. …

X-Linked Agammaglobulinemia - First Case With Bruton Tyrosine Kinase Mutation From Pakistan, Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar

Department of Paediatrics and Child Health

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.

Anemia In Children With Palmar Pallor Aged 02 Months To 05 Years, Saroop Chand, Farzana Shaikh, Chetan Das, Yasmeen Memon, Mohammad Akbar Nizamani, Zulfiqar Ali Qutrio Baloch

Department of Paediatrics and Child Health

Objective:
To determine the frequency of anemia in children with palmar pallor aged 02 months to 05 years.
Patients and Methods:
This cross sectional descriptive study of six months (01-12-2012 to 31-05-2013) was conducted in the department of paediatrics at Liaquat University Hospital Hyderabad. All the children, from 02 months to 05 years, of either gender had palmar pallor on examination were recruited and evaluated for anemia by assessing the level of haemoglobin and categorized anemia as mild, moderate and severe. The data was analyzed in SPSS version 16.00, the frequency and percentage was calculated. The chi-square test was applied …

Comparison Of The Effectiveness Of Zinc Supplementation In Tablets Form With That Of The Suspension Form In The Treatment Of Acute Diarrhoea, Sarwat Urooj, Hafeez Ullah Memon, Yasmeen Memon, Bibi Shazia Ali

Department of Paediatrics and Child Health

Objective: To compare the effectiveness of zinc supplementation in tablet form with that of the suspension form in the treatment of acute diarrhoea.Methods: A comparative study was carried out at the Liaquat University Hospital, Hyderabad, Pakistan from October 2008 to April 2009, and comprised children aged6-24 months suffering from acute diarrhoea. The patients were divided into two groups on the basis of even and odd numbers. Group A (even numbers) received dispersible zinc tablets, and group B (odd numbers) received zinc suspension. The patients were admitted for 3 days and improvement was checked at the end of 3rd day in …

Parental Perception And Childhood Obesity: Contributors To Incorrect Perception, Hiba Ashraf, Nida Ilyas Shamsi, Ruhma Ashraf

Medical College Documents

Objectives: To determine parental recognition of their child's weight, and to identify the contributing reasons for incorrect perception.

Method: This cross-sectional study was conducted from April to October 2010 at Aga Khan University Hospital, Karachi, and comprised parents of healthy children aged 5-14 years. An interviewer-based pre-tested questionnaire consisting of socio-demographic details, anthropometric measurements, and parental perception about their child's weight was administered. Data was analysed using SPSS 21. Both univariate and multivariate logistic regression were applied to assess for the risk factors associated with incorrect parental perception.

Results: Parents of a total of 330 eligible children …

Vaccine Coverage And Adherence To Epi Schedules In Eight Resource Poor Settings In The Mal-Ed Cohort Study, Christel Hoest, Jessica C. Seidman, Gwenyth Lee, James A. Platts-Mills, Syed Asad Ali, Maribel Paredes Olortegui, Pascal Bessong, Ram Chandyo, Sudhir Babji, Venkata Raghava Mohan

Department of Paediatrics and Child Health

Background: Launched in 1974, the Expanded Program on Immunization (EPI) is estimated to prevent two-three million deaths annually from polio, diphtheria, tuberculosis, pertussis, measles, and tetanus. Additional lives could be saved through better understanding what influences adherence to the EPI schedule in specific settings.
Methods: The Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) study followed cohorts in eight sites in South Asia, Africa, and South America and monitored vaccine receipt over the first two years of life for the children enrolled in the study. Vaccination histories were obtained …

Prevalence Of Non-Alcoholic Fatty Liver Disease In Overweight And Obese Children Seeking Ambulatory Health Services In Nairobi, Anne Njeri Mburu

Master of Medicine in Paediatrics and Child Health

Introduction: Non-alcoholic fatty liver disease is often an asymptomatic condition one of the leading causes of chronic liver disease and is associated with an increase in cardiovascular morbidity. Being overweight or obese has been positively linked to non-alcoholic fatty liver disease in children. There is evidence to show that when detected early, non-alcoholic fatty liver disease is reversible primarily upon institution of lifestyle changes targeted at weight reduction. Establishing the prevalence of non-alcoholic fatty liver disease in overweight and obese Kenyan children would serve as a benchmark for long term monitoring of associated morbidity and guide in public health policies …

Tuberous Sclerosis Complex In The Western Cape, South Africa: The Clinical Presentation Features, E. Kija, B. Schlegel, Pauline Samia, M. Wessels, J. M. Wilmshurst

Paediatrics and Child Health, East Africa

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures. Seven (18%) children had epileptic spasms. Skin manifestations led to a diagnosis in 13 (33%) and neuroimaging in 22 (56%) children. Antenatal screening …