scholarly journals Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Yuta Asakura ◽  
Hitoshi Osaka ◽  
Hiromi Aoi ◽  
Takeshi Mizuguchi ◽  
Naomichi Matsumoto ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Intellectual Disability ◽  
Nonsense Mutation ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Global Developmental Delay ◽  
Chromosomal Segregation ◽  
Chromosome Alignment ◽  
Number Of Genes ◽  
Old Japanese

AbstractMutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 (CHAMP1). We report on an 8-year-old Japanese girl who presented with a developmental disorder and microcephaly and carries a novel nonsense mutation in CHAMP1. Therefore, CHAMP1 mutation should be considered as a differential diagnosis of global developmental delay and microcephaly.

scholarly journals Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome

2021 ◽  
Vol 11 (9) ◽  
pp. 1150
Author(s):  
Celeste Casto ◽  
Valeria Dipasquale ◽  
Ida Ceravolo ◽  
Antonella Gambadauro ◽  
Emanuela Aliberto ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Adaptive Skills ◽  
Facial Features ◽  
Loss Of Function ◽  
Dental Anomalies ◽  
Congenital Cataracts ◽  
Disease Mechanisms ◽  
Whole Exome

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periventricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neurodevelopmental features associated with NHS.

Autism and the Pervasive Developmental Disorders: Part 2

1995 ◽  
Vol 16 (5) ◽  
pp. 168-176
Author(s):  
Stephen Bauer
Keyword(s):  
Differential Diagnosis ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Developmental Delays ◽  
Language Skills ◽  
Emotional Lability ◽  
Asperger Disorder ◽  
Stereotyped Behaviors ◽  
Dsm Iv

Differential Diagnosis The differential diagnosis of autism includes many other conditions and will depend on the age of the child at the time of evaluation, the child's developmental level, and the type of symptom that is most prominent. For a child found to fall within the spectrum of autism, the category most applicable along that spectrum is an additional differential diagnostic issue. The lines of division are not clear, although DSM-IV provides some help. In general, the term pervasive developmental disorder (PDD) is more likely to be used when cognitive, communicative, and social skills are high relative to other children who are autistic. Some studies have shown that the clinical criterion most useful in separating the two categories is the degree of socialization and relatedness shown by the child. Children who display an active social interest, a degree of empathy, and a better ability to sustain interactions tend to be placed in the PDD category. If they have particularly strong language skills along with the milder socialization difficulties, Asperger disorder is likely to be diagnosed. For the child who has significant developmental delays in all areas, the primary differential diagnosis will be mental retardation without autism. Many children who are severely mentally retarded exhibit some of the behaviors seen in autism, such as stereotyped behaviors and perseveration, emotional lability, and self-injurious behavior.

scholarly journals Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

2019 ◽  
Author(s):  
David B. Beck ◽  
Ana Petracovici ◽  
Chongsheng He ◽  
Hannah W. Moore ◽  
Raymond J. Louie ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Disorders ◽  
Cytosine Methylation ◽  
Catalytic Domain ◽  
Dna Demethylation ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Epigenetic Mark ◽  
Mendelian Disorder ◽  
Growth Abnormalities

ABSTRACTGermline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylation. Cytosine methylation of DNA (5mC) is the quintessential epigenetic mark, yet no human Mendelian disorder of DNA demethylation has been delineated. Here, we describe in detail the first Mendelian disorder caused by disruption of DNA demethylation. TET3 is a methylcytosine dioxygenase that initiates DNA demethylation during early zygote formation, embryogenesis, and neuronal differentiation and is intolerant to haploinsufficiency in mice and humans. Here we identify and characterize 11 cases of human TET3 deficiency in 8 families with the common phenotypic features of intellectual disability/global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities, and facial dysmorphism. Mono-allelic frameshift and nonsense variants in TET3 occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues with all but one occurring within the catalytic domain and most displaying hypomorphic function in a catalytic activity assay. TET3 deficiency shows substantial phenotypic overlap with other Mendelian disorders of the epigenetic machinery, including intellectual disability and growth abnormalities, underscoring shared disease mechanisms.

Helping Children with Special Needs: Who Receives Tympanostomy Tubes?

2021 ◽  
pp. 000348942098742
Author(s):  
David W. Wassef ◽  
Nehal Dhaduk ◽  
Savannah C. Roy ◽  
Gregory L. Barinsky ◽  
Evelyne Kalyoussef
Keyword(s):  
Developmental Disorders ◽  
Developmental Disorder ◽  
Private Insurance ◽  
Insurance Coverage ◽  
Tube Placement ◽  
Hospital Charges ◽  
Tympanostomy Tube ◽  
Tube Insertion ◽  
Tympanostomy Tubes

Objectives: Tympanostomy tubes can prevent sequelae of otitis media that adversely affect long term hearing and language development in children. These negative outcomes compound the existing difficulties faced by children who are already diagnosed with developmental disorders. This study aims to characterize this subset of children with developmental disorders undergoing myringotomy and tympanostomy tube insertion. Methods: A retrospective review using the Kids’ Inpatient Database (KID) was conducted, with codes from International Classification of Diseases, Ninth Revision used to query data from the years 2003 to 2012 to determine a study group of children with a diagnosis of a developmental disorder undergoing myringotomy and tympanostomy insertion. This group was compared statistically to patients undergoing these procedures who did not have a diagnosed developmental disorder. Results: In total, 21 945 cases of patients with myringotomy with or without tympanostomy tube insertion were identified, of which 1200 (5.5%) had a diagnosis of a developmental disorder. Children with developmental disorders had a higher mean age (3.3 years vs 2.9 years, P = .002) and higher mean hospital charges ($43 704.77 vs $32 764.22, P = .003). This cohort also had higher proportions of black (17.6% vs 12.3%, P < .001) and Hispanic (23.9% vs 20.6%, P = .014) patients, and had lower rates of private insurance coverage (39.6% vs 49%, P < .001). Conclusion: The population of children with developmental disorders undergoing myringotomy or tympanostomy tube placement has a different demographic composition than the general population and faces distinct financial and insurance coverage burdens. Further study should be done to assess if these differences impact long term outcomes.

scholarly journals The contribution of X-linked coding variation to severe developmental disorders

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Hilary C. Martin ◽  
◽  
Eugene J. Gardner ◽  
Kaitlin E. Samocha ◽  
Joanna Kaplanis ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Developmental Disorders ◽  
Developmental Disorder ◽  
Similar Rate ◽  
Large Datasets ◽  
Male Bias ◽  
Missense Variants ◽  
Males And Females

AbstractOver 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders.

scholarly journals Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

2021 ◽  
Author(s):  
Uirá Souto Melo ◽  
Devon Bonner ◽  
Kevin C. Kent Lloyd ◽  
Ala Moshiri ◽  
Brandon Willis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Global Developmental Delay ◽  
Loss Of Function

WED 202 Lamb-shaffer syndrome: importance of snp array in diagnosing neurodevelopmental syndromes

2018 ◽  
Vol 89 (10) ◽  
pp. A29.4-A30 ◽  
Author(s):  
Ela M Akay ◽  
Ian S Schofield ◽  
Ming H Lai ◽  
Rhys H Thomas
Keyword(s):  
Intellectual Disability ◽  
Language Impairment ◽  
Cervical Vertebrae ◽  
Snp Array ◽  
Global Developmental Delay ◽  
Prior History ◽  
Loss Of Function ◽  
Mild Intellectual Disability ◽  
Gene Encoding ◽  
Original Cohort

We describe the seizure phenotype of a 26 year old lady who presented with a probable photic-induced convulsion on a background of mild intellectual disability, facial dysmorphia, fused cervical vertebrae and ventricular septal defect. There was no prior history of seizures.Routine EEG was polyrhythmic with a prominent photoparoxysmal response at 14 Hz and 40 Hz. CT head was normal. A SNP array demonstrated a rare 51 kb deletion at 12 p12.1 which disrupts the SOX5 gene.SOX5 is a developmentally important gene encoding a transcription factor that plays a role in multiple developmental pathways including of the nervous system. Loss of function of this gene is associated with Lamb-Shaffer syndrome, first characterised in 2012 with global developmental delay, intellectual disability, mild dysmorphic facies, language impairment and variable skeletal abnormalities.3 of the original cohort of 16 patients described experienced seizures and the nature of their epilepsy was not further defined. Only a further 7 cases have been reported to date, none of whom experienced seizures. Our case helps to broaden the phenotype of Lamb-Shaffer syndrome, highlights the importance of looking for copy number variation and poses questions regarding the neurobiology of photo-sensitivity.

scholarly journals Characteristics of seizure frequency among Malaysian children diagnosed with structural– metabolic epilepsy

2012 ◽  
Vol 03 (03) ◽  
pp. 244-250 ◽  
Author(s):  
Muhannad RM Salih ◽  
Mohd Baidi Bahari ◽  
Mohamed Azmi Ahmad Hassali ◽  
Asrul Akmal Shafie ◽  
Omer Qutaiba B Al-lela ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Seizure Frequency ◽  
Substantial Reduction ◽  
Focal Seizure ◽  
Global Developmental Delay ◽  
Neurology Clinic ◽  
Collection Form ◽  
Metabolic Epilepsy

ABSTRACT Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient’s demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural–metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.

scholarly journals DETEKSI DINI KETERLAMBATAN PERKEMBANGAN UMUM (KPU) PADA SISWA PAUD DI KOTA DENPASAR

2018 ◽  
Vol 2 (1) ◽  
pp. 81
Author(s):  
Made Rismawan ◽  
Kusuma Negara ◽  
Kadek Parsi Kasmini
Keyword(s):  
Developmental Delay ◽  
Random Sampling ◽  
Growth And Development ◽  
Developmental Disorders ◽  
Research Result ◽  
Self Care ◽  
Sampling Technique ◽  
Global Developmental Delay ◽  
General Development ◽  
Cross Sectional

ABSTRAK.Latar Belakang. Masalah pertumbuhan dan perkembangan pada anak khususnya keterlambatan perkembangan umum masih terjadi. Diagnosis awal dan pengenalan tanda-tanda gangguan pertumbuhan dan perkembangan sangatlah penting dilaksanakan. Keterlambatan perkembangan umum (KPU) atau global developmental delay (GDD) adalah bagian dari ketidakmampuan mencapai perkembangan sesuai usia. Penelitian ini bertujuan untuk mengetahui gambaran deteksi dini KPU pada siswa PAUD di Kota Denpasar. Metode Penelitian. Desain penelitian yang digunakan adalah deskriptif kuantitatif dengan pendekatan cross-sectional. Penelitian dilakukan di empat PAUD di Kota Denpasar yaitu TK Kumara Loka, TK Mas Kumara, TK Widya Kumara dan TK Negeri Pembina Denpasar. Sampel dalam penelitian ini adalah siswa PAUD yang berjumlah 131 siswa yang dipilih menggunakan teknik random sampling. Instrumen penelitian menggunakan kuesioner Summary of Diabetes Self Care Activities. Instrumen penelitian adalah alat timbang berat badan, alat ukur tinggi badan dan instrumen Kuesioner Pra Skrining Perkembangan (KPSP). Hasil Penelitian. Hasil analisa data menunjukkan bahwa 116 (88%) responden memiliki pertumbuhan dan perkembangan yang sesuai dengan umurnya, 5 (4%) meragukan, dan 10 (8%) responden menyimpang. Frekuensi gambaran keterlambatan perkembangan pada siswa PAUD di Kota Denpasar 15 responden yang mengalami keterlambatan perkembangan, seluruhnya (100%) mengalami keterlambatan. Pembahasan. Masalah keterlambatan pertumbuhan dan perkembangan anak dapat akibat pola asuh orangtua, pengasuh ataupun suatu penyakit. Keterlambatan motorik pada anak bisa disebabkan oleh sedikitnya rangsangan yang diterima si kecil baik oleh pengasuh, orangtua ataupun mainanya.Hal ini menunjukkan bahwa keterlambatan ini sangat kompleks dan perlu upaya pencegahan agar dampaknya tidak merugikan anak. Simpulan. Oleh sebab itu, orang tua memiliki peran yang sangat penting dalam setiap tahap perkembangan anak. Kata kunci : keterlambatan perkembangan umum, siswa PAUD ABSTRACT.Background. Problems of growth and development in children, especially delay in general development still occur. Early diagnosis and introduction of signs of growth and developmental disorders. General development delays (KPUs) or the development of global delay (GDD) are part of the inability to reach the age of development. This study aims to determine early detection of PAUD students in Denpasar City. Research methods. The research design used is descriptive quantitative with cross-sectional approach. The research was conducted in four PAUD in Denpasar City namely Kumara Loka TK, TK Mas Kumara, TK Widya Kumara and TK Negeri Pembina Denpasar. The sample in this study were PAUD students who used 131 students selected using random sampling technique. The research instrument used questionnaires Summary of Diabetes Self-Care Activity. Instrument of Pre-Screening Questionnaire (KPSP). Research result. The result of data analysis showed 116 (88%) respondents had growth and development according to their age, 5 (4%) were dubious, and 10 (8%) respondents deviated. The frequency of aging in PAUD students in Denpasar City 15 respondents experiencing developmental delay, training (100%) experienced delays. Discussion. The problem of delayed growth and development of children can be caused by child care, caregiver or a disease. Motor delays in children can be demanded by the victim of stimulation received by the child either by the caregiver, old or playanya.Hal this shows the existence of this delay is very complex and need preventive efforts in order not to harm the child. Conclusion. Therefore, parents have a very important role in every stage of child development. Keywords: general development delay, PAUD students

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