Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review

Introduction: We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height.Methods: The clinical manifestations, gene sequencing results, treatment, and regression of one child with FHS were reported at the Department of Pediatrics, General Hospital of Tianjin Medical University, in July 2020. PubMed was searched using the keyword “Floating-Harbor Syndrome” up to March 2021 to obtain clinical information on children with FHS for review.Results: The child, who was a male aged 6 years and 9 months, presented to the clinic with main complaints of delayed language development since childhood and a short stature for 4 years. The child's short stature, peculiar facial features, delayed language development, and delayed bone development were considered alongside genetic testing and Sanger sequencing to verify the results. A heterozygous mutation (c.7401delC; p.Ile2468Phefs*7) was identified in exon 34 of the SRCAP gene, which was a frameshift mutation, and Sanger verification showed that neither parent had this mutation. The child was administered subcutaneous injection of rhGH (0.13 U/kg/day) and was followed up regularly. At the time of writing, the child had been treated for 6 months and was 7 years and 3 months old with a height of 106.3 cm (−3.69 SDS), which was a height increase of 6.3 cm. The patient did not complain of discomfort during treatment and presented normal laboratory tests results. Twenty-two children with FHS treated with rhGH were included in the literature review, and most of these patients demonstrated an increase in height SDS without adverse effects.Conclusion: Short stature, delayed skeletal maturation, impaired language expression, intellectual deficits, and peculiar facial features are the main clinical features of FHS. rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger sample sizes over longer periods of time.

Baclofen-Associated Neurophysiologic Target Engagement Across Species in Fragile X Syndrome

Background: Fragile X Syndrome (FXS) is the most common inherited form of neurodevelopmental disability. It is often characterized, especially in males, by intellectual disability, anxiety, repetitive behavior, social communication deficits, delayed language development and abnormal sensory processing. Recently, we identified electroencephalographic (EEG) biomarkers that are conserved between the mouse model of FXS (Fmr1 KO mice) and humans with FXS. Methods: In this report, we evaluate small molecule target engagement utilizing multielectrode array electrophysiology in the Fmr1 KO mouse and in humans with FXS. Neurophysiologic target engagement was evaluated using single doses of the GABAB selective agonist racemic baclofen (RBAC). Results: In Fmr1 KO mice and in humans with FXS, baclofen use was synchronously associated with suppression of elevated gamma power and increase in theta power at rest. In the Frm1 KO mice, a baclofen-associated improvement in auditory chirp synchronization was also noted. Conclusions: Overall, we noted synchronized target engagement of RBAC on resting state electrophysiology, in particular the reduction of aberrant high frequency gamma activity, across species in FXS. This finding holds promise for translational medicine approaches to drug development for FXS, synchronizing treatment study across species using well-established EEG biological markers in this field. Trial Registration: The human experiments are registered under NCT02998151.

Phonological Deficit Traits in Verbal Language of Dyslexics

Developmental dyslexia is a common learning disorder which is defined as a specific deficit in reading acquisition that cannot be accounted for by low IQ , lack of typical educational opportunities, or an obvious sensory or neurological damage. Dyslexic children commonly present with delayed language development first, which selectively affects phonological processing more than other aspects of language. The problem at the level of phonological representations causes a range of typical symptoms which include problems of verbal short-term memory, non-word repetitions, phonological learning of new verbal information, word retrieval, and rapid naming. This chapter will address the picture of early oral language difficulties especially phonological deficits in dyslexia, and how reading problems are related to them.

Pragmatic abilities of children with severe to profound hearing loss

<p class="abstract"><strong>Background:</strong> Western studies indicate that children with hearing impairment (CHI) are at risk of pragmatic delay due to their delayed language development. Pragmatics is influenced by culture. Hence the objective of the study was to compare the pragmatic skills of Marathi speaking CHI using hearing devices and typically developing children (TDC) matched according to their expressive language age, chronological age, and hearing age.</p><p class="abstract"><strong>Methods:</strong> Group I included 40 CHI using a hearing device having a chronological age range of 24 to 68 months, with an expressive language age of 6 to 48 months on receptive-expressive emergent language scale (REELS) and with a hearing age in the range of 12 to 36 months. Group II consisted of 40 TDC in the age range of 6 to 48 months. Checklist for assessment of pragmatics of pre-schoolerswas administered for assessment of pragmatics to children in both the groups.</p><p class="abstract"><strong>Results:</strong> Statistical analysis using unpaired t test indicated that there was a significant difference in pragmatic skills of the two groups when they were matched on the basis of their chronological and expressive language age (p&lt;0.01), but there was no significant difference between the two groups when they were matched on the basis of their hearing age (p&gt;0.01).</p><p class="abstract"><strong>Conclusions:</strong> Pragmatic ability is delayed in CHI and is more a function of hearing age than chronological age or expressive language age. Thus, pragmatic abilities should be assessed and intervention provided if required for CHI even if they have good expressive ability.</p>

Maternal toxoplasmosis and the risk of childhood autism: serological and molecular small-scale studies

Background Toxoplasmosis resulting from infection with the Toxoplasma parasite has become an endemic disease worldwide. Recently, a few studies have reported a high prevalence of Toxoplasmosis infections among Saudi Arabian women. This disease could become life threatening for pregnant women and for immunodeficient people. There is evidence that infections during pregnancy, especially in the early stages, are associated with neurodevelopmental disorders. Autism disorder represents one of the most common neurodevelopmental disorders worldwide; it is associated with delayed language development, weak communication interaction, and repetitive behavior. The relationship between prenatal toxoplasmosis and autism in childhood remains unclear. The present study aims to report a link between maternal toxoplasmosis and autistic offspring among Saudi Arabian women. Method Blood samples (36 maternal, 36 from their non-autistic children, and 36 from their autistic children) were collected for serological and molecular evaluation. Results A toxoplasmosis infection was reported for 33.34% of participants using an ELISA assay (5.56% IgG+/IgM+, 11.11% IgG−/IgM+, and 16.67% IgG+/IgM-); however, a nested PCR assay targeting B1 toxoplasmosis specific genes recorded positive tests for 80.56% of the samples. In addition, the present study detected several points of mutation of mtDNA including NADH dehydrogenase (ND1, ND4) and Cyt B genes and the nDNA pyruvate kinase (PK) gene for autistic children infected with toxoplasmosis. Conclusion Considering previous assumptions, we suggest that a maternal toxoplasmosis infection could have a role in the development of childhood autism linked to mtDNA and nDNA impairment.

The psycho phenotypic profile of an Egyptian sample of patients with ADHD

Objectives The current study aimed to investigate the psycho-phenotypic profile of an Egyptian sample with ADHD cases. Subjects & Methods Eighty cases diagnosed as ADHD (according to the DSMV) were enrolled in the current study. They were selected sequentially from those following up in the child and adolescent clinic, children hospital, Ain shams University. Results The ages of the enrolled sample ranged between 4&12 years. Males were (86%) and Female (14%) with ratio 7:1. Consanguinity rate was (25%) while positive family history was (12%). Perinatal insult was detected in (22%). Inattentive ADHD was seen in 90% of cases while combined type in 10%. According to Conner’s parents’ scale (5%) had mild, (25%) moderate and (70%) severe ADHD symptoms. Comorbid conditions were seen as follows; Delayed language development (30%), stuttering (9%), delayed bladder control (15%), pica (2%), polyphagia (2%), sleep disorders [nightmares (4%), insomnia (9%), somnambulism (3%)], poor academic performance (95%), dyslexia (15%), dysgraphia (18%), conduct disorder (5%) and aggression (12%). Conclusion The current study delineated that there are so many phenotypic variation in Egyptian ADHD cases. This high-lightened the importance of individual assessment of such cases in order to configure the subtype, severity and identification of possible comorbidity. This enable the clinicians to individualize a treatment plan for each patient aiming at better outcome.