Pediatric Neurodevelopmental Disorders Research Articles

“Trust Your Gut”: Promising Precision Approaches in Childhood Neuropsychiatric Disorders

The gut-brain axis has been increasingly linked to pediatric neurodevelopmental and neuropsychiatric disorders. Accumulating evidence indicates that there are microbial fingerprints in these conditions, which may lead to personalized therapies. However, few review articles have provided a comprehensive synthesis to guide clinical translation. We aim to summarize current evidence of gut microbiome alterations in these childhood disorders, and opportunities for precision management approaches. There are numerous promising early-life interventions including probiotics and fecal microbial transplants. These treatment modalities may become targeted strategies to reduce both the risk of developing these disorders and their concurrent comorbidity. [ Psychiatr Ann. 2024;54(4):e103–e107.]

The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.

Exome sequencing (ES) has been utilized in diagnosing children with neurodevelopmental manifestations, this study aimed to investigate the utility of ES in children within a highly consanguineous population that presented with neurodevelopmental complaints. A retrospective chart review was performed for 405 children with neurodevelopmental complaints who have had ES and were evaluated in multiple centers in the United Arab Emirates over a four-year period. Within the cohort of 405 children, consanguinity was reported in 35% (144/405). The primary clinical presentations were developmental delay/cognitive impairment, distinctive facial features, hypotonia, seizures, and weakness. The diagnostic yield was 57% (231/405). Novel variants were identified in 54% (125/231) of positive cases. Within the positive cases, specific treatment was available in 6% (13/231) and copy number variants (CNV) were reported in 3% (8/231) of cases. In eight children, variants in genes that have not yet been linked to human disease that could potentially be the cause of the observed phenotype "candidate genes" were identified. ES was utilized effectively within this cohort with a high diagnostic yield and through the identification of novel gene variants, CNVs, candidate genes and secondary findings as well as the alteration of the treatment plan in cases where treatment was available.

Externalizing the Executive Functions in Working Memory of Children with Attention Deficit Hyperactive Disorder

Around the globe, between 6 to 7 percent of children are diagnosed with ADHD, making it the most commonly diagnosed pediatric Neuro-developmental disorder. In India, ADHD is found to be a very under-researched topic. However, it does make learning difficult. Learning involves using the executive functions of the brain particularly the ability to focus, pay attention, engage with a task, and use working memory. This article will explain the effectiveness of externalizing the Executive Functioning of the Working memory of a child with ADHD. Various Intervention Strategies such as Yoga, Meditation, Cognitive Behavior therapy, Inclusive Classroom, and the introduction of Gamification in Academics can be used to create interest and Attention among children with ADHD. All the interventions act as Physical and Mental Stimulants. The inclusive setting paves way for assimilation and accommodation for Children with Attention Deficit Hyper-active Disorder. The heterogeneous group or the diverse learners in the inclusive classroom brings a change in the ADHD child, they try to adjust and be comfortable with their peers, and the teacher becomes a facilitator and teaches ADHD students using various strategies in the classroom. The teacher, student, and parent relationship becomes effective and is considered a golden triangle.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

Microtubule affinity regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mTOR pathway. Abnormal tau phosphorylation and dysregulation of the mTOR pathway are implicated in neurodegenerative and neurodevelopmental disorders. Here, we report a gain-of-function variant in MARK4 in two siblings with childhood-onset neurodevelopmental disability and dysmorphic features. The siblings carry a germline heterozygous missense MARK4 variant c.604T>C; p.Phe202Leu, located in the catalytic domain of the kinase, which they inherited from their unaffected, somatic mosaic mother. Functional studies show that this amino acid substitution has no impact on protein expression but instead increases the ability of MARK4 to phosphorylate tau isoforms found in the fetal and adult brain. The MARK4 variant also increases phosphorylation of ribosomal protein S6, indicating upregulation of the mTORC1 pathway. In this study, we link a germline monoallelic MARK4 variant to a childhood-onset neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral abnormalities, and dysmorphic features.

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children

BackgroundP-21-activated kinases (PAKs) are protein serine/threonine kinases, part of the RAS/mitogen-activated protein kinase pathway. PAK1 is highly expressed in the central nervous system and crucially involved in neuronal migration and brain developmental processes. Recently, de novo heterozygous missense variants in PAK1 have been identified as an ultrarare cause of pediatric neurodevelopmental disorders. MethodsWe report a series of children affected with postnatal macrocephaly, neurodevelopmental impairment, and drug-resistant epilepsy. Repeated electroencephalographic (EEG) and video-EEG evaluations were performed over a two- to 10-year period during follow-up to delineate electroclinical histories. Genetic sequencing studies and computational evaluation of the identified variants were performed in our patient cohort. ResultsWe identified by whole-exome sequencing three novel de novo variants in PAK1 (NM_001128620: c.427A>G, p.Met143Val; c.428T>C, p.Met143Thr; c.428T>A, p.Met143Lys) as the underlying cause of the disease in our families. The three variants affected the same highly conserved Met143 residue within the cysteine-rich inhibitor of PAK1 (CRIPaK) domain, which was identified before as a PAK1 inhibitor target. Computational studies suggested a defective autoinhibition presumably due to impaired PAK1 autoregulation as a result of the recurrent substitution. ConclusionsWe delineated the electroclinical phenotypes of PAK1-related neurological disorders and highlight a novel mutational hotspot that may involve defective autoinhibition of the PAK1 protein. The three novel variants affecting the same hotspot residue within the CRIPaK domain highlight potentially impaired PAK1-CRIPaK interaction as a novel disease mechanism. These findings shed light on possible future treatments targeted at the CRIPaK domain, to modulate PAK1 activity and function.

Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity

BackgroundAttention deficit hyperactivity disorder (ADHD) is commonly associated with developmental dyslexia (DD), which are both prevalent and complicated pediatric neurodevelopmental disorders that have a significant influence on children’s learning and development. Clinically, the comorbidity incidence of DD and ADHD is between 25 and 48%. Children with DD and ADHD may have more severe cognitive deficiencies, a poorer level of schooling, and a higher risk of social and emotional management disorders. Furthermore, patients with this comorbidity are frequently treated for a single condition in clinical settings, and the therapeutic outcome is poor. The development of effective treatment approaches against these diseases is complicated by their comorbidity features. This is often a major problem in diagnosis and treatment. In this study, we developed bioinformatical methodology for the analysis of the comorbidity of these two diseases. As such, the search for candidate genes related to the comorbid conditions of ADHD and DD can help in elucidating the molecular mechanisms underlying the comorbid condition, and can also be useful for genotyping and identifying new drug targets.ResultsUsing the ANDSystem tool, the reconstruction and analysis of gene networks associated with ADHD and dyslexia was carried out. The gene network of ADHD included 599 genes/proteins and 148,978 interactions, while that of dyslexia included 167 genes/proteins and 27,083 interactions. When the ANDSystem and GeneCards data were combined, a total of 213 genes/proteins for ADHD and dyslexia were found. An approach for ranking genes implicated in the comorbid condition of the two diseases was proposed. The approach is based on ten criteria for ranking genes by their importance, including relevance scores of association between disease and genes, standard methods of gene prioritization, as well as original criteria that take into account the characteristics of an associative gene network and the presence of known polymorphisms in the analyzed genes. Among the top 20 genes with the highest priority DRD2, DRD4, CNTNAP2 and GRIN2B are mentioned in the literature as directly linked with the comorbidity of ADHD and dyslexia. According to the proposed approach, the genes OPRM1, CHRNA4 and SNCA had the highest priority in the development of comorbidity of these two diseases. Additionally, it was revealed that the most relevant genes are involved in biological processes related to signal transduction, positive regulation of transcription from RNA polymerase II promoters, chemical synaptic transmission, response to drugs, ion transmembrane transport, nervous system development, cell adhesion, and neuron migration.ConclusionsThe application of methods of reconstruction and analysis of gene networks is a powerful tool for studying the molecular mechanisms of comorbid conditions. The method put forth to rank genes by their importance for the comorbid condition of ADHD and dyslexia was employed to predict genes that play key roles in the development of the comorbid condition. The results can be utilized to plan experiments for the identification of novel candidate genes and search for novel pharmacological targets.

Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.

Although pediatric epilepsy is an independent disease entity, it is often observed in pediatric neurodevelopmental disorders (NDDs) as a major or minor clinical feature, which might provide diagnostic clues. This study aimed to identify the clinical and genetic characteristics of patients with epilepsy in an NDD cohort and demonstrate the importance of genetic testing. We retrospectively analyzed the detailed clinical differences of pediatric NDD patients with epilepsy according to their genetic etiology. Among 1,213 patients with NDDs, 477 were genetically diagnosed by exome sequencing, and 168 had epilepsy and causative variants in 129 genes. Causative genes were classified into two groups: (i) the "epilepsy-genes" group resulting in epilepsy as the main phenotype listed in OMIM, Epi25, and ClinGen (67 patients) and (ii) the "NDD-genes" group not included in the "epilepsy-genes" group (101 patients). Patients in the "epilepsy-genes" group started having seizures, often characterized by epilepsy syndrome, at a younger age. However, overall clinical features, including treatment responses and all neurologic manifestations, showed no significant differences between the two groups. Gene ontology analysis revealed the close interactions of epilepsy genes associated with ion channels and neurotransmitters. We demonstrated a similar clinical presentation of different gene groups regarding biological/molecular processes in a large NDDs cohort with epilepsy. Phenotype-driven genetic analysis should cover a broad scope, and further studies are required to elucidate integrated pathomechanisms.

HSD82 Economic Burden and Service Utilisation of Children with Attention-Deficit/Hyperactivity Disorder (ADHD) - A Systematic Review and Meta-Analysis

Attention-deficit/hyperactivity disorder (ADHD) is the most common pediatric neurodevelopmental disorders. While the long-term outcomes associated with ADHD (e.g., low academic performance, increased behavioural problems) has been well-documented, less research focused on the economic burden and service utilisation of ADHD. This study aims to systematically synthesise the literature on service utilisation and the economic costs of ADHD in children.

Emerging Role and Place of Probiotics in the Management of Pediatric Neurodevelopmental Disorders.

Khanna HN, Roy S, Shaikh A, et al. Emerging Role and Place of Probiotics in the Management of Pediatric Neurodevelopmental Disorders. Euroasian J Hepato-Gastroenterol 2022;12(2):102-108.

Therapeutic applications of transcutaneous auricular vagus nerve stimulation with potential for application in neurodevelopmental or other pediatric disorders.

Non-invasive transcutaneous auricular vagus nerve stimulation (taVNS) as a newly developed technique involves stimulating the cutaneous receptive field formed by the auricular branch of the vagus nerve in the outer ear, with resulting activation of vagal connections to central and peripheral nervous systems. Increasing evidence indicates that maladaptive neural plasticity may underlie the pathology of several pediatric neurodevelopmental and psychiatric disorders, such as autism spectrum disorder, attention deficit hyperactivity disorder, disruptive behavioral disorder and stress-related disorder. Vagal stimulation may therefore provide a useful intervention for treating maladaptive neural plasticity. In the current review we summarize the current literature primarily on therapeutic use in adults and discuss the prospects of applying taVNS as a therapeutic intervention in specific pediatric neurodevelopmental and other psychiatric disorders. Furthermore, we also briefly discuss factors that would help optimize taVNS protocols in future clinical applications. We conclude from these initial findings that taVNS may be a promising alternative treatment for pediatric disorders which do not respond to other interventions.

Iron deficiency and common neurodevelopmental disorders-A scoping review.

A wealth of human and experimental studies document a causal and aggravating role of iron deficiency in neurodevelopmental disorders. While pre-, peri-, and early postnatal iron deficiency sets the stage for the risk of developing neurodevelopmental disorders, iron deficiency acquired at later ages aggravates pre-existing neurodevelopmental disorders. Yet, the association of iron deficiency and neurodevelopmental disorders in childhood and adolescence has not yet been explored comprehensively. In this scoping review, we investigate 1) the association of iron deficiency in children and adolescents with the most frequent neurodevelopmental disorders, ADHD, ASD, and FASD, and 2) whether iron supplementation improves outcomes in these disorders. Scoping review of studies published between 1994 and 2021 using "iron deficiency / iron deficiency anemia" AND "ADHD" OR "autism" OR "FASD" in four biomedical databases. The main inclusion criterion was that articles needed to have quantitative determination of iron status at any postnatal age with primary iron markers such as serum ferritin being reported in association with ADHD, ASD, or FASD. For ADHD, 22/30 studies and 4/4 systematic reviews showed an association of ADHD occurrence or severity with iron deficiency; 6/6 treatment studies including 2 randomized controlled trials demonstrated positive effects of iron supplementation. For ASD, 3/6 studies showed an association with iron deficiency, while 3/6 and 1/1 systematic literature review did not; 4 studies showed a variety of prevalence rates of iron deficiency in ASD populations; 1 randomized controlled trial found no positive effect of iron supplementation on behavioural symptoms of ASD. For FASD, 2/2 studies showed an association of iron deficiency with growth retardation in infants and children with prenatal alcohol exposure. Evidence in favor of screening for iron deficiency and using iron supplementation for pediatric neurodevelopmental disorders comes primarily from ADHD studies and needs to be further investigated for ASD and FASD. Further analysis of study methodologies employed and populations investigated is needed to compare studies against each other and further substantiate the evidence created.

Comparison of the Effects of Movement-Based Interventions Delivered Face-to-face Versus Via Telehealth on Restricted and Repetitive Behaviors of Children With Autism Spectrum Disorder

Background Autism spectrum disorder (ASD) is the most common pediatric neurodevelopmental disorder with a prevalence of 1 in every 44 children. Children with ASD exhibit social communication and behavioral impairments including poor verbal and nonverbal communication and heightened frequencies of repetitive and maladaptive behaviors (RBs). Objective Our randomized controlled trial compares face-to-face (F2F) versus telehealth-based intervention delivery for three types of interventions: two whole-body gross motor interventions and a conventional seated play (SP) intervention on RBs in children with ASD. Methods A total of 45 children with a confirmed diagnosis of ASD (aged 5-14 years) were recruited, matched on age bands and level of functioning, and randomly assigned to 1 of the 3 intervention groups, creative movement (CM), general movement (GM), or SP. Sessions were 1 to 1.5 hours long and were conducted with the child twice a week over 8 weeks by an expert clinician, adult confederate, and the caregiver. We coded videos of early and late training sessions for 3 types of RBs: sensory, stereotyped, and negative. Frequencies per standard time were calculated for RBs across early and late sessions. Results Data from a subset of 39 children suggest that there was a significant reduction in total RBs from an early to a late session in the CM group (early: mean 34.8, SE 5.0; late: mean 24.7, SE 3.9; P=.01) but not in the GM (early: mean 34.8, SE 5.0; late: mean 24.7, SE 3.9; P=.01) and SP groups (early: mean 14.6, SE 3.1; late: mean 15.2, SE 4.0; P=.79). The reduction in total RBs in the CM group did not differ significantly between children seen F2F (mean 14.2, SE 4.4) versus via telehealth (mean 5.3, SE 3.8; P=.20). The CM group specifically reduced frequencies of sensory (early: mean 10.7, SE 1.8; late: mean 6.2, SE 1.9; P=.03) and negative (early: mean 10.7, SE 2.6; late: mean 7.4, SE 2.3; P=.01) behaviors. Similar to the trends reported above, the reductions were not significantly different for children seen F2F and via telehealth (sensory F2F: mean 5.1, SE 1.8; sensory telehealth: mean 4.7, SE 3.7; P=.92; negative F2F: mean 2.6, SE 1.3; negative telehealth mean 3.7, SE 2.1; P=.66). Conclusions CM activities involving music and movement are novel contexts and lead to higher frequencies of RBs at baseline compared to conventional SP activities in children with ASD. However, training children reduced the frequencies of RBs, especially negative and sensory behaviors. No improvements were found in the GM or SP groups. Although our sample size was limited, preliminary data suggests similar trends for improvement in children seen F2F versus via telehealth. Telehealth-based training seems to be a viable mode of intervention delivery for families with difficulties accessing in-person care. Conflicts of Interest None declared.

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.

Pathogenic somatic variants affecting the genes Histone 3 Family 3A and 3B (H3F3) are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, H3F3 germline missense variants were described as the cause of a novel pediatric neurodevelopmental disorder. We aimed to investigate patterns of brain MR imaging of individuals carrying H3F3 germline variants. In this retrospective study, we included individuals with proved H3F3 causative genetic variants and available brain MR imaging scans. Clinical and demographic data were retrieved from available medical records. Molecular genetic testing results were classified using the American College of Medical Genetics criteria for variant curation. Brain MR imaging abnormalities were analyzed according to their location, signal intensity, and associated clinical symptoms. Numeric variables were described according to their distribution, with median and interquartile range. Eighteen individuals (10 males, 56%) with H3F3 germline variants were included. Thirteen of 18 individuals (72%) presented with a small posterior fossa. Six individuals (33%) presented with reduced size and an internal rotational appearance of the heads of the caudate nuclei along with an enlarged and squared appearance of the frontal horns of the lateral ventricles. Five individuals (28%) presented with dysgenesis of the splenium of the corpus callosum. Cortical developmental abnormalities were noted in 8 individuals (44%), with dysgyria and hypoplastic temporal poles being the most frequent presentation. Imaging phenotypes in germline H3F3-affected individuals are related to brain features, including a small posterior fossa as well as dysgenesis of the corpus callosum, cortical developmental abnormalities, and deformity of lateral ventricles.

Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)

Copy number variants (CNVs) are common causes of human genetic diseases. CNVs detection has become a routine component of genetic testing, especially for pediatric neurodevelopmental disorders, multiple congenital abnormalities, prenatal evaluation of fetuses with structural anomalies detected by ultrasound. Although the technologies for CNVs detection are continuously improving, the interpretation is still challenging, with significant discordance across different laboratories. In 2020, the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) developed a guideline for the interpreting and reporting of constitutional copy number variants, which introduced a quantitative, evidence-based scoring framework. Here, we detailed the key points of interpreting the copy number gain based on the guideline, used six examples of different categories to illuminate the scoring process and principles. We encourage a professional understanding and application of this guideline for the detected copy number gains in China in order to further improve the clinical evaluation accuracy and consistency across different laboratories.

The role of cannabinoids in neurodevelopmental disorders of children and adolescents.

Neurodevelopmental disorders have a multifactorial etiology that results from the interaction between biological and environmental factors. The biological basis of many of these disorders is only partially understood, which makes therapeutic interventions, especially pharmacological ones, particularly difficult. The impact of medical cannabis on neurological and psychiatric disorders has been studied for a long time. This study aimed to review the currently available clinical and pre-clinical studies regarding the use of cannabinoids in pediatric neurodevelopmental disorders and to draw attention to the potential therapeutic role of cannabidiol in this field. Cannabidiol is an endocannabinoid system modulator and exerts its effects on both developing and mature brains through numerous mechanisms. Cannabidiol holds a relatively high toxicity limit and current literature suggests that it may have anxiolytic, antipsychotic, and neuroprotective properties. Clinical evidence suggests that early treatment with cannabidiol might be a promising therapy for neurodevelopmental disorders, including intellectual disability, autism spectrum disorders, tics, and attention/deficit hyperactivity disorder. This review hopefully draws attention to an emerging body of evidence concerning cannabidiol's significant potential to safely improve many of the common symptoms affecting children and adolescents with neurodevelopmental disorders, especially autism spectrum disorder.

A retrospective analysis of memantine use in a pediatric neurology clinic

BackgroundMemantine is an N-methyl-D-aspartate receptor (NMDA-R) antagonist, approved for dementia, but also studied in pediatric autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). MethodsWe reviewed children treated with memantine in a single-centre pediatric neurology clinic. Clinical data extracted included age, sex, weight, clinical history, reason for memantine prescription, period of treatment trial and dosage, treatment response, side effects, and concomitant medications. ResultsEight patients met inclusion criteria with diagnoses including developmental and epileptic encephalopathy, focal epilepsy, ASD, ADHD. Four reported clear cognitive improvement, though two of these started other concurrent treatments at the time of memantine initiation. One of three patients with poorly-controlled epilepsy, a girl with a GRIN2A variant of uncertain significance, had a clear reduction in seizure frequency. No serious adverse events were noted. ConclusionsMemantine is generally well-tolerated in children, and may have potential benefit for a broad range of pediatric neurodevelopmental disorders.

Effects of anodal multichannel transcranial direct current stimulation (tDCS) on social-cognitive performance in healthy subjects: A randomized sham-controlled crossover pilot study.

Recent studies suggest that temporoparietal junction (TPJ) modulation can influence attention and social cognition performance. Nevertheless, no studies have used multichannel transcranial direct current stimulation (tDCS) over bilateral TPJ to estimate the effects on these neuropsychological functions. The project STIPED is using optimized multichannel stimulation as an innovative treatment approach for chronic pediatric neurodevelopmental disorders, namely in children/adolescents with Autism Spectrum Disorder (ASD). In this pilot study, we aim to explore whether anodal multichannel tDCS coupled with a Joint Attention Task (JAT) influences social-cognitive task performance relative to sham stimulation, both in an Emotion Recognition Task (ERT) and in a Mooney Faces Detection Task (MFDT), as well as to evaluate this technique's safety and tolerability. Twenty healthy adults were enrolled in a randomized, single-blinded, sham-controlled, crossover study. During two sessions, participants completed the ERT and the MFDT before and after 20min of sham or anodal tDCS over bilateral TPJ. No significant differences on performance accuracy and reaction time were found between stimulation conditions for all tasks, including the JAT. A significant main time effect for overall accuracy and reaction time was found for the MFDT. Itching was the most common side effect and stimulation conditions detection was at chance level. Results suggest that multichannel tDCS over bilateral TPJ does not affect performance of low-level emotional recognition tasks in healthy adults. Although preliminary safety and tolerability are demonstrated, further studies over longer periods will be pursued to investigate the clinical efficacy in children/adolescents with ASD, where social cognition impairments are preponderant.

Structural Connectomics: State of the Art and Applications in Pediatric Neurodevelopmental Disorders, Neuro-Oncology, and Arterial Ischemic Stroke

Structural Connectomics: State of the Art and Applications in Pediatric Neurodevelopmental Disorders, Neuro-Oncology, and Arterial Ischemic Stroke

Shaping healthy habits in children with neurodevelopmental and mental health disorders: parent perceptions of barriers, facilitators and promising strategies

ObjectivePrevalence of pediatric neurodevelopmental and mental health disorders (ND/MHD) is increasing in the United States and globally. ND/MHD are associated with higher risk of poor dietary, physical activity (PA), screen, and sleep habits in youth, contributing to elevated lifetime chronic disease risk. ND/MHD symptoms can present unique challenges to parenting, create competing parenting priorities, and may decrease parental capacity to instill healthy habits. Unfortunately, literature characterizing parenting of health habits in youth with ND/MHD is sparse. The objective of this study was to describe barriers to, facilitators of, and practical strategies for parenting healthy lifestyle habits in children and teens with ND/MHD.MethodsWe conducted semi-structured interviews with parents whose children with diagnosed ND/MHD were attending a Boston-area therapeutic day school serving K-10th grade. Interviews allowed parents to focus on parenting PA, diet, sleep, and/or screen habits as context for questions. Interviews were transcribed, double-coded using constant comparative methods, and summarized into themes using NVivo 11.ResultsWe interviewed 24 parents; average age of their child with ND/MHD was 11.2 years (range: 8–15). Most had a son (75%) with multiple ND/MHD (88%); diagnoses included autism spectrum disorder (50%), attention deficit-hyperactivity disorder (67%), anxiety (67%), and other mood disorders (58%). Major barriers to parenting all types of health habits included depleted parent resources, child dysregulation, lack of supportive programming available to children with ND/MHD, and medication side effects. Major facilitators included participation in specialized therapeutic options, adaptive community programs and schools, as well as parents’ social capital. Effective parenting strategies included setting clear, often structural boundaries, using positive reinforcement, allowing agency by presenting healthy choices, and use of role modeling to promote healthy habits. Almost one third of parents extensively discussed the role of pets or therapy animals as key to establishing and maintaining healthy routines, particularly PA and screen-time management.ConclusionsParenting healthy habits in children with ND/MHD is difficult and is undermined by competing demands on parenting resources. To reduce chronic disease disparities and promote health in this population, future research must better adapt existing health promotion materials and programs to more practically support parents in multiple settings including home, schools and community organizations.

Oral findings in Rett syndrome: An update and review of the literature.

Rett syndrome is a progressive pediatric neurodevelopmental disorder, predominantly affecting females, characterized by a seemingly normal prenatal and perinatal period, followed by neurodevelopmental stagnation, and then rapid regression.The purpose of this study was to provide an update of the literature on the oral aspects of Rett syndrome and their possible treatment in patients suffering from this pathology. After an electronic and manual search in MEDLINE (PubMed) and the Cochrane Library, 12 articles were found, for a total of 142 patients affected by Rett syndrome. A high prevalence of bruxism, anterior open bite, ogival palate, sucking habits, and difficulties in maintaining oral hygiene was noted. There were also oral findings related to the pharmacological treatment, which included xerostomia, glossitis, erythema multiforme, gingival hyperplasia, dysphagia, and lingual paralysis. It is important for the dentist to know what problems related to the oral cavity can be encountered in a patient diagnosed with Rett syndrome and what preventive measures can be applied.