Nicoletta Pietropaoli

The Celiac Iceberg: Characterization of the Disease in Primary Schoolchildren

Objective: Celiac disease (CD) has a prevalence of 0.55% to 1% in Italy. Identifying CD in schoolchildren to characterize CD iceberg and evaluate the effect of diagnosis in screening-detected children. Methods: A total of 7377 5- to 8-year-old children were invited to participate. A total of 5733 salivary samples were collected and tested for anti-transglutaminase antibodies (tTGAb), using a fluid-phase radioimmunoassay. Salivary tTGAb-positive children were analyzed for serum antibodies (anti-endomysium antibodies, radioimmunoassay, and enzyme-linked immunosorbent assay tTGAb). Positive children underwent endoscopy and then started gluten-free diet (GFD) and periodical follow-up. Results: Forty-six subjects were found salivary tTGAb–positive and 16 border-line. Forty-five of 46 and 5 of 15 of them were also serum antibody–positive. Forty-two children showed duodenal villous atrophy and 1 had only type 1 lesions. Three children started GFD without performing endoscopy. CD prevalence (including 23 previously diagnosed children with CD) was 1.2%. Considering all 65 celiacs in our sample, a silent CD was found in 64%, typical in 28%, atypical in 7%, and potential in 1%. All patients showed strict adherence to GFD, weight and stature increase, and well-being improvement. Eighty-five percent and all but 2 screening-detected children with CD had Italian parents. Conclusions: Our sample size, representative of primary schoolchildren of our region, demonstrated that CD prevalence is growing in Italy, with a modified clinical spectrum and iceberg deepness.

Rapid maxillary expansion outcomes in treatment of obstructive sleep apnea in children

OBJECTIVES The objectives of this study were to confirm the efficacy of rapid maxillary expansion in children with moderate adenotonsillar hypertrophy in a larger sample and to evaluate retrospectively its long-term benefits in a group of children who underwent orthodontic treatment 10 years ago. METHODS After general clinical examination and overnight polysomnography, all eligible children underwent cephalometric evaluation and started 12 months of therapy with rapid maxillary expansion. A new polysomnography was performed at the end of treatment (T1). Fourteen children underwent clinical evaluation and Brouilette questionnaire, 10 years after the end of treatment (T2). RESULTS Forty patients were eligible for recruitment. At T1, 34/40 (85%) patients showed a decrease of apnea-hypopnea index (AHI) greater than 20% (ΔAHI 67.45% ± 25.73%) and were defined responders. Only 6/40 (15%) showed a decrease <20% of AHI at T1 and were defined as non-responders (ΔAHI -53.47% ± 61.57%). Moreover, 57.5% of patients presented residual OSA (AHI > 1 ev/h) after treatment. Disease duration was significantly lower (2.5 ± 1.4 years vs 4.8 ± 1.9 years, p <0.005) and age at disease onset was higher in responder patients compared to non-responders (3.8 ± 1.5 years vs 2.3 ± 1.9 years, p <0.05). Cephalometric variables showed an increase of cranial base angle in non-responder patients (p <0.05). Fourteen children (mean age 17.0 ± 1.9 years) who ended orthodontic treatment 10 years previously showed improvement of Brouilette score. CONCLUSION Starting an orthodontic treatment as early as symptoms appear is important in order to increase the efficacy of treatment. An integrated therapy is needed.

Diagnosis of Pediatric Obstructive Sleep Apnea Syndrome in Settings With Limited Resources

IMPORTANCE Although polysomnographic (PSG) testing is the gold standard for the diagnosis of obstructive sleep apnea syndrome (OSAS) in children, the number of pediatric sleep laboratories is limited. Developing new screening methods for identifying OSAS may reduce the need for PSG testing. OBJECTIVE To evaluate the combined use of the sleep clinical record (SCR) and nocturnal oximetry testing for predicting PSG results in children with clinically suspected OSAS. DESIGN, SETTING, AND PARTICIPANTS Prospective study over 10 months. A cohort of 268 consecutive children (mean [SD], age 6 [3] years) referred for clinically suspected OSAS was studied at a pediatric sleep center at a university hospital. Children with disorders other than adenotonsillar hypertrophy or obesity were excluded. MAIN OUTCOMES AND MEASURES Mild OSAS (obstructive apnea-hypopnea index [AHI], 1-5 episodes/h) and moderate-to-severe OSAS (AHI, >5 episodes/h) were the main outcome measures. Sleep clinical record scores greater than or equal to6.5 were considered positive, as were McGill oximetry scores (MOS) greater than 1, and these positive scores were the main explanatory variables in our study. Each participant was evaluated by the SCR, followed by pulse oximetry test the first night and PSG test in the sleep laboratory the second night. RESULTS Of the total participants, 236 (88.1%) were diagnosed with OSAS, 236 (88.1%) had a positive SCR score, and 50 (18.7%) had a positive MOS. Participants with positive SCR scores had significantly increased risk of an AHI greater than or equal to 1 (adjusted odds ratio [AOR], 9.3; 95% CI, 3.7-23.2; P < .001). Children with an MOS greater than 1 were significantly more likely to have an AHI greater than 5 episodes/h than children with an MOS equal to 1 (AOR, 26.5; 95% CI, 7.8-89.2; P < .001). A positive SCR score had satisfactory sensitivity (91.9%) and positive predictive value (91.9%) but limited specificity (40.6%) and negative predictive value (40.6%) for OSAS. An MOS greater than 1 had excellent specificity (97.4%) and positive predictive value (94%) but low sensitivity (39.2%) and fair negative predictive value (60.8%) for moderate-to-severe OSAS among children with a positive SCR score. The combination of SCR scores and MOS correctly predicted primary snoring, mild OSAS, or moderate-to-severe OSAS in 154 of 268 (57.4%) participants. CONCLUSIONS AND RELEVANCE The combined use of the SCR score and nocturnal oximetry results has moderate success in predicting sleep-disordered breathing severity when PSG testing is not an option.

Role of the gluten-free diet on neurological-EEG findings and sleep disordered breathing in children with celiac disease

PURPOSE To determine whether celiac children are at risk for EEG-neurological features and sleep disordered breathing (SDB), and whether an appropriate gluten-free diet (GFD) influences these disorders. METHODS We consecutively enrolled 19 children with a new biopsy-proven celiac disease (CD) diagnosis. At CD diagnosis and after 6 months of GFD, each patient underwent a general and neurological examination, an electroencephalogram, a questionnaire about neurological features, and a validated questionnaire about SDB: OSA (obstructive sleep apnea) scores<0 predict normality; values>0 predict OSA. RESULTS At CD diagnosis, 37% of patients complained headache that affected daily activities and 32% showed positive OSA score. The EEG examinations revealed abnormal finding in 48% of children. After 6 months of GFD headache disappeared in 72% of children and EEG abnormalities in 78%; all children showed negative OSA score. CONCLUSION According to our preliminary data, in the presence of unexplained EEG abnormalities and/or other neurological disorders/SDB an atypical or silent CD should also be taken into account.

Celiac disease in a large cohort of children and adolescents with recurrent headache: A retrospective study.

BACKGROUND The clinical picture of celiac disease is changing with the emergence of subclinical forms and growing evidence reporting associated neurological disorders. AIMS To establish the prevalence of celiac disease in children suffering from recurrent headache. METHODS In our retrospective study we collected charts from 1131 children attending our tertiary care Centre for Paediatric Headache over the period 2001-2012. They were screened for celiac disease and positive patients were referred to our Operative Unit for Coeliac disease and confirmed positive children underwent upper endoscopy with multiple duodenal biopsies. Celiac children started a gluten-free diet. RESULTS 883 children (481 females; median age, 9.8 years, range 3-19) performed celiac disease screening, and among them, 11 children (7 females; median age, 8.2 years, range: 4.8-13.9) were diagnosed with celiac disease. Seven children (5 females, median age, 11.9 years, range: 10.3-13.9) had been diagnosed as celiac prior to the neurological evaluation. The prevalence of celiac disease in our sample is 2.04% vs. 1.2% of the general population (p=0.034). CONCLUSIONS Our study demonstrates, on a large series, that celiac disease prevalence is doubled in patients with chronic headache. Screening for celiac disease could be advised as part of the diagnostic work-up in these paediatric patients, particularly among pharmacological non-responders.

Cognitive function in preschool children with sleep-disordered breathing.

PurposeThe purposes of this study were to assess cognitive functions in preschool children with sleep-disordered breathing (SDB) and to compare them with matched control children.MethodsA clinical sample of 2.5- to 6-year-old children with SDB was recruited. All children underwent sleep clinical record (SCR), which is a polysomnography (PSG)-validated questionnaire for diagnosing SDB, a polysomnography and a neurocognitive assessment. Normal controls were recruited from a kindergarten. They underwent the SCR and the cognitive assessment.ResultsWe studied 41 children with primary snoring (PS)-mild obstructive sleep apnea syndrome (OSAS; M/F = 15/26, mean age 4.43 ± 0.94), 36 children with moderate-severe OSAS (M/F = 22/14, mean age 4.33 ± 1.02), and 83 controls (M/F = 33/50, mean age 4.5 ± 0.64). In the two groups, no differences were found in duration and age of onset of SDB, while a significant difference emerged in SCR score (p < 0.005). No differences emerged in the three groups in Verbal IQ, Performance IQ, and Global IQ scores, nor in any cognitive subtests.ConclusionsWe demonstrated that SDB of all severities is not associated with cognitive impairment compared to the control group in preschool age.

Apparent life-threatening events could be a wake-up call for sleep disordered breathing

Polysomnographic recordings of children with an apparent life‐threatening event (ALTE) have often displayed signs of partial or complete obstruction during sleep. Various studies have focused on facial dysmorphia in infants with ALTE and tried to establish a correlation between ALTE and obstructive sleep apnoea. Our study evaluates the phenotypic characteristics and the presence of sleep disorders in pre‐school children who had at least one ALTE in the first year of life.

Autonomic imbalance during apneic episodes in pediatric obstructive sleep apnea

OBJECTIVES To investigate the activity of the autonomic nervous system (ANS) during sleep in children with obstructive sleep apnea (OSA), in order to detect a possible cardiac ANS imbalance analyzing heart rate variability (HRV). METHODS 43 subjects between 4 and 12 years of age (7.26 ± 2.8 years), undergoing a diagnostic assessment for OSA were evaluated. A time domain index (R-apnea index) was developed to evaluate HRV strictly related to obstructive events during sleep. Poincaré plot of RR intervals during the whole night was calculated. RESULTS R-apnea index was negatively correlated with apnea hypopnea index (AHI) (r=-0.360, p=0.028). AHI and the duration of the disease were the only variables that were significantly correlated with R-apnea index. Three groups were subsequently created according to polysomnographic findings considering AHI. R-apnea index resulted significantly lower in patient with severe OSA compared to primary snoring/mild OSA subjects (p<0.05). Looking at Poincaré plot, SD1 showed a diminishing trend with severity of OSA, however not reaching statistical significance. CONCLUSIONS Our findings suggest an autonomic impairment in OSA children evidenced by the altered HRV both in the very short term (R-apnea index) and in short term (SD1). SIGNIFICANCE R-apnea index is an easy and cheap method to undelay early ANS imbalance.

SURGICAL AND NON-SURGICAL THERAPY OF OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN.

Interventions of paediatric obstructive sleep apnea syndrome are complex, varied and multidisciplinary. The goal of the treatment is to restore optimal breathing during the night and to relieve associated symptoms. Evidence suggests that the surgical intervention with removal of the tonsils and adenoids will lead to significant improvements in the most incomplicated cases, as recently reported from a meta-analysis. However, post-operative persistence of this syndrome in paediatric population is more frequent than expected, which supports the idea of the complexity of this syndrome. Adenotomy alone may not be sufficient in children with OSAS, because it does not address oropharyngeal obstruction secondary to tonsillar hyperplasia. Continuous positive airway pressure can effectively treat this syndrome in selected groups of children, improving both nocturnal and daytime symptoms, but poor adherence is a limiting factor. For this reason, CPAP is not recommended as first-line therapy for OSAS when adenotonsillectomy is an option. It is now being investigated the incorporation of nonsurgical approaches for milder forms and for residual OSAS after surgical intervention. Althought adeno-tonsillar hypertrophy is the most common for OSAS in children; obesity is emerging as an equally important etiological factor. Therefore an intensive weight reduction program and adequate sleep hygiene are also important lifestyle changes that may be very effective in mitigating the symptoms of this syndrome. Pharmacological therapy (leukotriene antagonists, topical nasal steroids) is usually use for mild forms of OSAS and in children with associated allergic diseases. Special orthodontic treatment and oropharyngeal exercises are a relatively new and promising alternative therapeutic modality used in selected groups of children with OSAS.