History Of Developmental Disorder Research Articles

157 Evaluating Interest in Clinical Trial Participation for the Treatment of Pediatric Food Allergy

OBJECTIVES/GOALS: Roughly 8% of children in the United States have a diagnosed food allergy (FA). The ubiquity of most food allergens increases the potential for accidental exposures. Clinical trials (CT) are used to test novel treatments for FA. This project will evaluate the influence of biopsychosocial factors on interest in CT participation for pediatric FA. METHODS/STUDY POPULATION: This project is subsumed under the FORWARD study (5R01AI130348-04), a multisite study currently underway at four pediatric FA clinics across the United States. Eligible participants include patients and families who meet the following criteria: 1) New clinic visit presenting for a possible FA complaint and/or has a physician diagnosis in a follow-up clinic visit; 2) child is between the age of 6-months and 12 years at intake visit; 3) are English speaking, and 4) no history of developmental disorders. Parents are asked to complete an intake survey, followed by a series of quarterly surveys administered via REDCap. A single variable from the intake survey queries interest in CT participation; quarterly surveys assess FA knowledge, attitudes, health beliefs, and management practices. RESULTS/ANTICIPATED RESULTS: To date, 890 families have completed the intake survey. Working hypotheses include: 1) parents of older children and children with a higher condition severity rating will report greater levels of interest in CT participation; 2) parents with greater FA knowledge, more health management beliefs that support action, and less FA-related anxiety, will report greater levels of interest in CT participation; 3) relative to White families, African American families will be less interested in participating; 4) families with >1 child with FA will report greater levels of interest in CT participation; 5) families who are uninsured, low-SES, and are unemployed will report lower levels of interest in CT participation; and 6) families with higher educational attainment will report lower levels of interest in CT participation. DISCUSSION/SIGNIFICANCE: This study will advance decision science, address existing disparities, and have far-reaching clinical implications. This novel approach will enhance our ability to predict who is at the greatest risk of anaphylaxis and help healthcare providers identify families who could benefit from experimental treatment options for pediatric FA.

Uncommon sublingual ulceration in an infant

Sir, An eight-month-old girl was referred to our department with an extensive lingual ulceration. The parents noted that she had habitually bitten her tongue since the release of her first teeth at the age of six months. She was a poor feeder and did not sleep well because of the painful lingual ulceration. There was no family history of developmental disorders or congenital syndromes. Intraoral examination revealed a deep, circular, and extensive ulceration of the whole ventral surface of the tongue with intermittent bleeding in the tongue (Figs. 1a – c). An examination of the rest of the intraoral mucosa revealed that the lower central incisors had recently erupted. However, there were two other ulcerations of the palmar surface of the second and third fingers caused by nocturnal finger biting. Neurological examination noted a lack of pain sensitivity related to peripheral neuropathy diagnosed as congenital insensitivity to pain. Based on the clinical features and the particular site on the ventral surface of the tongue against the lower central incisors and ulcerative lesions of the fingers due to self-biting, the lesion was diagnosed as Riga–Fede disease. Because of the size of the ulceration, significant pain during feeding led to inadequate nutrient intake associated with permanent sleep disturbances. Radical treatment was chosen and the lower central incisors were extracted. Topical corticosteroids were prescribed to help with healing. The term Riga–Fede disease has been used to describe a traumatic ulceration that has occurred on the ventral surface of the tongue in newborn babies and infants. It is most commonly related to neonatal or natal teeth but may also occur in infants after the eruption of the primary lower incisors [1]. This benign ulceration occurs as a result of repetitive mechanical trauma caused to the oral mucosal surfaces by the teeth and is most commonly located on the ventral surface of the tongue against the teeth [1,2]. Riga–Fede disease may reveal an underlying developmental or neurologic disorder, including congenital insensitivities to pain [3]. The case of our patient was associated with congenital insensitivity to pain. Failure to diagnose may lead to dehydration and inadequate nutrient intake in the infant because of the significant pain during feeding. No biopsy is needed. The diagnosis of Riga–Fede disease is based on clinical characteristics [1,2]. Treatment should focus on eliminating the source of trauma. Conservative treatment is attempted at first by grinding the sharp edges of the teeth and placing composite resin in a dome shape or by placing a protective ring. If conservative treatment fails to heal the wounds, radical treatment may be necessary, such as extraction of the teeth [2,3]. We believe that Riga–Fede disease must be recognized by clinicians to avoid misdiagnosis and delayed treatment.

Asymptomatic Dandy Walker variant in adult

Introduction Dandy-Walker Malformation is a rare congenital malformation which is characterized by the agenesis or hypoplasia of vermis cerebellum, cyst dilation of 4th ventricle and enlargement of posterior fossa. The incidence of Dandy-Walker Malformation (DWM) in USA is one case over 25.000-35.000 in every birth rate, with 40% of them are females and 60% are males. Meanwhile, there is still no definite incidence of Dandy-Walker Malformation in Indonesia. There are 11 articles reported asymptomatic DWM. Case report A 23 years old female presented with moderate and persistent headache, with no aura or hallucination since 1 year before admission. There were no symptoms of increased intrakranial pressure. There is no history head trauma and no history of developmental disorders while childhood. The neurological physical examination, fundus photos, OCT and humphrey from the eye part within normal limits. The EEG shows a normal EEG. The head CT-Scan and head MRI of the contras that revealed agenesis of cerebellar vermis and extensive CSF cysts at the cysterna magna with the enlarged fourth ventricle suggestive of Dandy-Walker malformation without hydrocephalus. In these patients managed conservative therapy and follow-up were carried out without surgical therapy. It seems that in the case of patients with asymptomatic DWS, CSF dynamics compensate for malformations. Conclusion There are important aspects should be followed up in asymptomatic Dandy Walker Malformation patients, there are head MRI to determine the present of hydrocephalus, high ICP signs, and cerebellum symptoms examination.

Screening for Developmental Disorders in 4 to 60 Months Old Children in Iran (2015–2016)

AbstractDevelopmental delay occurs when children fail to reach their developmental milestones at the appropriate time. The aim of this study was to determine the prevalence of developmental disorders as well as their correlations with selected demographic factors affecting development in children 4 to 60 months old in Khorramabad, Iran from 2015 to 2016. In this cross-sectional study, 500 children from 4 to 60 months of age and visiting health service centers were selected. Developmental status was measured using the Ages and Stages Questionnaire, and supplementary data were collected by separate questionnaires. Data were analyzed by the SPSS software using the independent t-test, chi-square test, and Mann–Whitney U test. Note that 8.6% of the children assessed in this study had developmental disorders. The mean age of the children in the normal group was 21.95 ± 16.42 months and in the developmental delay group was 16 ± 13.46 months. The highest prevalence of developmental delay was in the fine motor area (4.2%) and the lowest was in the personal–social area (1.4%). There were correlations between developmental disorder and the child's age (p = 0.006), birth order (p = 0.02), mother's education (p = 0.007), and father's education (p = 0.002). The parents' age, familial marriage, history of developmental disorders in the family, and the child's gender were not correlated with developmental disorders. Due to the high prevalence of developmental disorders and the importance of early identification and intervention, it is necessary to diagnose developmental disorders at early ages.

Information processing speed in multiple sclerosis: Past, present, and future

Background: Information processing speed (IPS) is a prevalent cognitive impairment in multiple sclerosis (MS). Objectives: This review aims to summarize the methods applied to assess IPS in MS and its theoretical conceptualization. A PubMed search was performed to select articles published between 1 January 2004 and 31 December 2013, resulting in 157 articles included. Results: The majority (54%) of studies assessed IPS with heterogeneous samples (several disease courses). Studies often report controlling for presence of other neurological disorders (60.5%), age (58.6%), education (51.6%), alcohol history (47.8%), or use of steroids (39.5%). Potential confounding variables, such as recent relapses (50.3%), history of developmental disorders (19.1%), and visual problems (29.9%), were often neglected. Assessments used to study IPS were heterogeneous (ranging from simple to complex tasks) among the studies under review, with 62 different tasks used. Only 9.6% of articles defined the construct of IPS and 22.3% discussed IPS in relation to a theoretical model. Future directions: The challenges for the upcoming decade include clarification of the definition of IPS as well as its theoretical conceptualization and a consensus on assessment. Based on the results obtained, we propose a new theoretical model, the tri-factor model of IPS.

Medical and developmental risk factors of catatonia in children and adolescents: A prospective case–control study

ContextRare diseases have been associated with more and more genetic and non genetic causes and risk factors. But this has not been systematically assessed in catatonia, one of the psychiatric syndromes, that is most frequently associated with medical condition. ObjectiveWe sought to assess the medical and developmental risk factors of catatonia in children and adolescents. MethodsFrom 1993 to 2009, 58 youths aged 10 to 18years were prospectively admitted for catatonia and were followed up after discharge. A multidisciplinary approach assessed patients' medical condition and developmental history. A causality assessment scored medical risk (maximum score=10; κ=0.91). We compared the prevalence of catatonia in these patients to that of 80 inpatients with bipolar I disorder admitted from 1993 to 2003 who were also followed up. ResultsWe found that 13 (22.4%) patients had medical conditions and 18 (31%) had a history of developmental disorder in the catatonia group, whereas 1 (1.3%) and 17 (22.6%) patients had the same conditions in the bipolar group (p<0.001; p=0.17, respectively). Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). Six patients responded to a specific treatment approach related to their medical condition (e.g., plasma exchange in the case of auto-immune encephalitis). ConclusionCatatonia in children and adolescents is associated with a high prevalence of medical conditions. This needs to be acknowledged as it may greatly delay the treatment of catatonia and the diagnosis of medically related catatonia. Tragically, this may deny patients treatment opportunities.

Adult psychosocial outcomes of children with specific language impairment, pragmatic language impairment and autism

Background: The few studies that have tracked children with developmental language disorder to adulthood have found that these individuals experience considerable difficulties with psychosocial adjustment (for example, academic, vocational and social aptitude). Evidence that some children also develop autistic symptomatology over time has raised suggestions that developmental language disorder may be a high-functioning form of an autism spectrum disorder (ASD). It is not yet clear whether these outcomes vary between individuals with different subtypes of language impairment.Aims: To compare the adult psychosocial outcomes of children with specific language impairment (SLI), pragmatic language impairment (PLI) and ASD.Methods & Procedures: All participants took part in research as children. In total, there were 19 young adults with a childhood history of Specific Language Impairment (M age = 24;8), seven with PLI (M age = 22;3), 11 with high functioning ASD (M age = 21;9) and 12 adults with no history of developmental disorder (Typical; n = 12; M age = 21;6). At follow-up, participants and their parents were interviewed to elicit information about psychosocial outcomes.Outcomes & Results: Participants in the SLI group were most likely to pursue vocational training and work in jobs not requiring a high level of language/literacy ability. The PLI group tended to obtain higher levels of education and work in ‘skilled’ professions. The ASD participants had lower levels of independence and more difficulty obtaining employment than the PLI and SLI participants. All groups had problems establishing social relationships, but these difficulties were most prominent in the PLI and ASD groups. A small number of participants in each group were found to experience affective disturbances. The PLI and SLI groups showed lower levels of autistic symptomatology than the ASD group.Conclusions & Implications: The between-group differences in autistic symptomatology provide further evidence that SLI, PLI, and ASD are related disorders that vary along qualitative dimensions of language structure, language use and circumscribed interests. Childhood diagnosis showed some relation to adult psychosocial outcome. However, within-group variation highlights the importance of evaluating children on a case-by-case basis.

Cerebral dominance for language function in adults with specific language impairment or autism.

A link between developmental language disorders and atypical cerebral lateralization has been postulated since the 1920s, but evidence has been indirect and inconsistent. The current study investigated this proposal using functional transcranial Doppler ultrasonography (fTCD), which assesses blood flow through the middle cerebral arteries serving the left and right cerebral hemispheres. A group of young adults with specific language impairment (SLI; n = 11) were recruited along with three comparison groups: (i) adults with a history of childhood SLI, but who did not meet criteria for language impairment in adulthood (SLI-history; n = 9); (ii) adults with an autism spectrum disorder and a comorbid language impairment (ASD; n = 11) and (iii) adults with no history of developmental disorder (typical; n = 11). There was no difference between the chronological age of the four groups, and the SLI and typical groups were individually matched on gender and handedness. During fTCD measurement, participants were asked to silently generate words starting with a given letter and then later required to verbalize these. All of the participants in the SLI-history group and the majority of participants in the ASD (81.8%) and typical (90.9%) groups had greater activation in the left compared to the right middle cerebral arteries, indicating left hemisphere dominance. In contrast, the majority of participants in the SLI groups had language function lateralized to the right hemisphere (54.5%) or dispersed bilaterally (27.3%). These findings suggest that atypical cerebral dominance is not implicated in all cases of poor language development (i.e. ASD and SLI-history groups), but may act as a biological marker of persisting SLI.

Exploring the Cognitive Phenotype of Autism: Weak “Central Coherence” in Parents and Siblings of Children with Autism: II. Real‐life Skills and Preferences

Information on everyday life activities and preferences in both social and nonsocial domains was obtained from parents and children who had taken part in an experimental study of central coherence. Comparisons were made between parents who had a son with autism, parents with a dyslexic son, and families without a history of developmental disorder, as well as the male siblings in these families. Data on everyday preferences and abilities were elicited by means of an experimental questionnaire. Significant group differences in social and nonsocial preferences were found, suggesting that some parents showed similarities with their son with autism, in preference for nonsocial activities and ability in detail-focused processing. A similar experimental questionnaire, completed by parents on behalf of their sons, discriminated between autism group probands and controls, but did not differentiate sibling groups. The relevance of the nonsocial items to central coherence is discussed in the light of the findings in Part I: autism parents who reported more autism-related nonsocial (but not social) preferences, tended to show a piecemeal processing style on the experimental tasks.