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Articoli di riviste sul tema "Genetic disorders in children"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 29 luglio 2024

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1

Ćirić, Sanela. "DIFFERENCES IN PARENTS' ATTITUDES TOWARDS THE CAUSES OF NEURODEVELOPMENTAL DISORDERS." Multidisciplinarni Pristupi u Edukaciji i Rehabilitaciji 6, no. 7 (August 15, 2024): 161–70. http://dx.doi.org/10.59519/mper6115.

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Neurodevelopmental disorders are a heterogeneous group of clinical conditions characterized by deficits in one or more aspects of development, with the most prevalent subgroups being autism spectrum disorders and intellectual developmental disorders. Longitudinal studies have shown a significant increase in the number of children with autism spectrum disorders over the past few decades compared to the stable prevalence of intellectual developmental disorders. The aim of this study was to examine and compare the attitudes of parents of children with autism spectrum disorders and parents of chil

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2

Fisch, Gene S., Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J. A. Holden, Jack Tarleton, Richard Simensen, and Agatino Battaglia. "Developmental Trajectories in Syndromes With Intellectual Disability, With a Focus on Wolf-Hirschhorn and Its Cognitive–Behavioral Profile." American Journal on Intellectual and Developmental Disabilities 117, no. 2 (February 1, 2012): 167–79. http://dx.doi.org/10.1352/1944-7558-117.2.167.

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Abstract Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn syndrome, assessing their intellectual and adaptive behavior abilities. We retested 61 children 2 years later. We compared Time 1 and Time 2 difference scores related to genetic disorder, age, initial IQ, or adaptive behavior composite. Results sh

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3

Lashwood, Alison. "Preimplantation genetic diagnosis to prevent genetic disorders in children." British Journal of Nursing 14, no. 2 (January 2005): 64–70. http://dx.doi.org/10.12968/bjon.2005.14.2.17433.

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4

Barrie, Alpha-Umaru. "Youth perspectives on genetic inheritance, carrier status and disclosure." Journal of Haemophilia Practice 3, no. 2 (July 1, 2016): 21–28. http://dx.doi.org/10.17225/jhp00077.

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Abstract Knowledge about genetic inheritance as a concept in children and young people with bleeding disorders is synonymous, in many ways, with other inherited genetic conditions. Children and young people have a more physiological understanding of inheritance, but may hold mistaken and inaccurate beliefs in understanding basic genetics. There are complex ethical and social problems in the genetic testing of youngsters with bleeding disorders to establish carrier status. Current guideline recommendations indicate circumstances where clear psychosocial and medical benefits can be demonstrated.

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Rudin, I. V. "SPEECH DISORDERS OF GENETIC ORIGIN IN TEACHING PRACTICE." Education & Pedagogy Journal, no. 1(1) (July 6, 2021): 56–63. http://dx.doi.org/10.23951/2782-2575-2021-1-56-63.

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In recent years, there has been a significant increase in children with various speech disorders. Also, identifying the factors causing these disorders early and providing proper support is increasingly important. If the steps to correct such speech disorders are not taken quickly, secondary issues, such as communication, socialization, and educational problems, are observed. Training and corrective measures should be carried out while considering both the individual’s psychological and physiological characteristics. Identifying the cause and symptoms of a speech disorder plays an important ro

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6

Mueller, Sven C., Pamela Ng, Ninet Sinaii, Ellen W. Leschek, Liza Green-Golan, Carol VanRyzin, Monique Ernst, and Deborah P. Merke. "Psychiatric characterization of children with genetic causes of hyperandrogenism." European Journal of Endocrinology 163, no. 5 (November 2010): 801–10. http://dx.doi.org/10.1530/eje-10-0693.

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ObjectiveVery little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group.Design/methodsChildren (8–18 years) with the diagnosis of classic congenital adrenal hyperplasia (CAH) or familial male precocious puberty (FMPP) underwent a semi-structured psychiatric interview, the Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version. According to sex and the literature, incidence of identified psychopathology was compared between the two endocrinological grou

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7

Zhestkova, M. A., and D. Yu Ovsyannikov. "GENETIC DISORDERS OF SURFACTANT PROTEINS." Pediatria. Journal named after G.N. Speransky 100, no. 5 (October 11, 2021): 82–89. http://dx.doi.org/10.24110/0031-403x-2021-100-5-82-89.

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The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.

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8

You, Haizhen, Junyao Shi, Fangfang Huang, Zhiyun Wei, Gary Jones, Wenchong Du, and Jing Hua. "Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children." Brain Sciences 13, no. 6 (June 11, 2023): 940. http://dx.doi.org/10.3390/brainsci13060940.

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Developmental coordination disorder (DCD) is a developmental disorder characterized by impaired motor coordination, often co-occurring with attention deficit disorder, autism spectrum disorders, and other psychological and behavioural conditions. The aetiology of DCD is believed to involve brain changes and environmental factors, with genetics also playing a role in its pathogenesis. Recent research has identified several candidate genes and genetic factors associated with motor impairment, including deletions, copy number variations, single nucleotide polymorphisms, and epigenetic modificatio

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9

Pletcher, Beth A., and Nelson L. Turcios. "Pulmonary Manifestations of Genetic Disorders in Children." Pediatric Clinics of North America 68, no. 1 (February 2021): 1–24. http://dx.doi.org/10.1016/j.pcl.2020.09.010.

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10

Clauss, Sarah B., and Peter O. Kwiterovich. "Genetic disorders of lipoprotein transport in children." Progress in Pediatric Cardiology 17, no. 2 (September 2003): 123–33. http://dx.doi.org/10.1016/s1058-9813(03)00049-3.

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11

Morozova, E. A., M. V. Belousova, D. V. Morozov, D. I. Gabelko, and V. V. Bogolyubova. "Genetic aspects of speech disorders in children." Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 123, no. 9 (2023): 87. http://dx.doi.org/10.17116/jnevro202312309287.

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12

Frans, E. M., P. Lichtenstein, C. M. Hultman, and R. Kuja-Halkola. "Age at fatherhood: heritability and associations with psychiatric disorders." Psychological Medicine 46, no. 14 (August 12, 2016): 2981–88. http://dx.doi.org/10.1017/s0033291716001744.

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BackgroundAdvancing paternal age has been linked to psychiatric disorders. These associations might be caused by the increased number of de novo mutations transmitted to offspring of older men. It has also been suggested that the associations are confounded by a genetic liability for psychiatric disorders in parents. The aim of this study was to indirectly test the confounding hypotheses by examining if there is a genetic component to advancing paternal age and if men with a genetic liability for psychiatric disorders have children at older ages.MethodWe examined the genetic component to advan

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13

Felsenfeld, Susan, and Robert Plomin. "Epidemiological and Offspring Analyses of Developmental Speech Disorders Using Data From the Colorado Adoption Project." Journal of Speech, Language, and Hearing Research 40, no. 4 (August 1997): 778–91. http://dx.doi.org/10.1044/jslhr.4004.778.

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Although the adoption design is the most powerful method to disentangle nature and nurture, it has not been applied previously to developmental speech or language disorders. The present study examined the speech outcomes of 156 adopted and nonadopted children at varying risk for speech disorders based upon self-reported parental speech history. The sample consisted of four groups: a) 16 adopted children with an affected biological parent; (b) 19 adopted children with an affected adoptive parent; (c) 31 nonadopted children with an affected natural parent; and (d) 90 low-risk adopted and nonadop

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14

Pak, Lale A., Kirill V. Savostyanov, Lyudmila M. Kuzenkova, Alexander A. Pushkov, Ilya S. Zhanin, and Eugeniya V. Uvakina. "Molecular genetic diagnosis of speech disorders in children." L.O. Badalyan Neurological Journal 3, no. 1 (March 30, 2022): 7–13. http://dx.doi.org/10.46563/2686-8997-2022-3-1-7-13.

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Introduction. Speech disorders (SD) are one of the urgent problems of childhood neurology. Despite the long history of studying speech disorders in children, the use of modern instrumental research in the diagnosis, the use of various therapeutic techniques for their correction, scientific interest in understanding the pathogenetic foundations of these disorders remains relatively high. In recent years, much attention has been paid to studying the genetic causes of the development of this pathology. Currently, data are presented on more than 20 candidate genes that may determine isolated speec

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Luhrs, Kyleen, Tracey Ward, Caitlin M. Hudac, Jennifer Gerdts, Holly A. F. Stessman, Evan E. Eichler, and Raphael A. Bernier. "Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism." Autism Research and Treatment 2017 (2017): 1–9. http://dx.doi.org/10.1155/2017/9371964.

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The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n=62), de novo deletion copy number variations (DEL, n=74), de novo likely gene-disrupting mutations (LGDM, n=267), and children without a known genet

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16

Cerniglia, Luca. "Neurobiological, Genetic, and Epigenetic Foundations of Eating Disorders in Youth." Children 11, no. 3 (February 23, 2024): 274. http://dx.doi.org/10.3390/children11030274.

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Eating disorders (EDs), encompassing conditions such as anorexia nervosa, bulimia nervosa, and binge eating disorder, represent a significant public health concern, particularly among children and adolescents [...]

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Glotov, O. S., A. N. Chernov, P. A. Suchko, Yu A. Eismont, and L. A. Mayorova. "Formation of cognitive processes in children with autism. Part II. Genetic mechanisms." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, no. 2 (May 8, 2024): 26–33. http://dx.doi.org/10.21508/1027-4065-2024-69-2-26-33.

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Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2% of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about symptoms, genetic etiolog

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Kuraeva, Tamara Leonidovna, Elena Aleksandrovna Sechko, Lubov' Iosifovna Zilberman, Olga Nikolaevna Ivanova, Aleksandr Yurievich Mayorov, Ekaterina Olegovna Koksharova, Valentina Aleksandrovna Peterkova, and Ivan Ivanovich Dedov. "Molecular genetic and clinical variants MODY2 and MODY3 in children in Russia." Problems of Endocrinology 61, no. 5 (January 28, 2016): 14–25. http://dx.doi.org/10.14341/probl201561514-25.

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Aim — to research molecular genetic and clinical characteristics of diabetes mellitus MODY2 and MODY3 in children.Material and methods. Genetic testing for GCK and HNF1α was performed in 169 patients with carbohydrate metabolism disorders, with age of diagnosis under 18. Carbohydrate metabolism disorders were interpreted as MODY. Analysis of clinical data at the presentation of carbohydrate metabolism disorder and cases follow-up was provided in 62 patients with genetic confirmed MODY2 and 18 patients with genetic confirmed MODY3.Results. Ratio MODY2 and MODY3 was 3,4:1. Carbohydrate metabolis

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19

Belousova, E. D., O. S. Groznova, and V. Yu Voinova. "Genome-wide sequencing in children with epilepsy and developmental disorders." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, no. 2 (May 10, 2024): 56–64. http://dx.doi.org/10.21508/1027-4065-2024-69-2-56-64.

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The progress of genetic diagnostic methods and a significant improvement in the quality of next-generation sequencing (NGS) have led to a revolution in the study of the genetics of epilepsy. Genome-wide sequencing (PSG) is the «gold standard» in genetic research in epilepsy.Material and methods. Genome-wide sequencing was performed in 168 probands aged from 1 month to 18 years with a suspected diagnosis of genetic epilepsy. PSG was prescribed to patients who, alongside with epilepsy, had delayed intellectual/speech development and/or motor disorders and behavioral disorders.Results. According

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20

Cop, Esra, Pinar Yurtbasi, Ozgur Oner, and Kerim Munir. "Genetic testing in children with autism spectrum disorders." Anatolian Journal of Psychiatry 16, no. 6 (2015): 426. http://dx.doi.org/10.5455/apd.1414607917.

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21

Mokhtar, M. M. "Chromosomal aberrations in children with suspected genetic disorders." Eastern Mediterranean Health Journal 3, no. 1 (January 15, 1997): 114–22. http://dx.doi.org/10.26719/1997.3.1.114.

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Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 [38.7%] had an abnormal karyotype:trisomy 21 [36;26.3%], trisomy 18 [3;2.2%], trisomy 13 [1;0.7%], partial autosomal aneuploidy [5;3.6%], pericentric inversion of chromosome 9 [2;1.5%], marker chromosome [2;1.5%] and sex chromosome aberrations [4;2.9%]. All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytog

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22

Clarke, David. "Handbook of Neurodevelopmental and Genetic Disorders in Children." Journal of Applied Research in Intellectual Disabilities 14, no. 4 (December 2001): 420–21. http://dx.doi.org/10.1111/j.1468-3148.2001.00080.x.

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Goldson, Edward. "Handbook of Neurodevelopmental and Genetic Disorders in Children,." Journal of Developmental & Behavioral Pediatrics 21, no. 4 (August 2000): 307–8. http://dx.doi.org/10.1097/00004703-200008000-00013.

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Tully, Elizabeth M. "Handbook of Neurodevelopmental and Genetic Disorders in Children." Journal of the American Academy of Child & Adolescent Psychiatry 39, no. 7 (July 2000): 935. http://dx.doi.org/10.1097/00004583-200007000-00026.

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DONNELLY, CRAIG L. "Handbook of Neurodevelopmental and Genetic Disorders in Children." American Journal of Psychiatry 159, no. 6 (June 2002): 1070–71. http://dx.doi.org/10.1176/appi.ajp.159.6.1070.

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Rapin, Isabelle. "Handbook of neurodevelopmental and genetic disorders in children." Annals of Neurology 47, no. 3 (March 2000): 415. http://dx.doi.org/10.1002/1531-8249(200003)47:3<415::aid-ana29>3.0.co;2-b.

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Maritska, Ziske, Atikah M. Ihsan, Ina Rahmawati, Perawati Perawati, Mohammad Hilal Atthariq Ramadhan, Bintang Arroyantri Prananjaya, and Nita Parisa. "Genetic Conditions Associated with Intellectual Disability in Indonesian Population: A Review." Sriwijaya Journal of Medicine 7, no. 1 (June 10, 2024): 8–15. http://dx.doi.org/10.32539/sjm.v7i1.220.

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Abstract (sommario):

Intellectual disability (ID) brings challenges to the affected individuals, their families, and the community at large. It is a multifactorial condition with many contributing factors, namely genetics. This review aims to briefly provide several related genetic conditions for ID in the Indonesian population. Literature studies search relevant articles using PubMed and Google Scholar using the terms ‘intellectual disability’, ‘genetics', ‘Indonesian population’. In Indonesia, the prevalence of children with ID is 1–3%, with 62,011 school-aged children affected with Intellectual Disability. Gene

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Chen, Lei-Shih, Jungkyung Min, Shixi Zhao, Yu-Chen Yeh, and Tse-Yang Huang. "Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders." Autism 23, no. 4 (August 3, 2018): 902–9. http://dx.doi.org/10.1177/1362361318778903.

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We conducted the first needs assessment study by examining the information needs in genetic testing for autism spectrum disorders among parents of children with autism spectrum disorders in Taiwan. Parents of children with autism spectrum disorders in 236 public elementary schools with special education services were invited to complete a survey. About two-thirds of participants (65.7%) had never heard about genetic testing for autism spectrum disorders. Yet, the majority (71.4%) expressed an interest in learning about this testing. The top three topics participants identified to assist them i

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Gavryutina, Irina, Lawrence Fordjour, and Vivian L. Chin. "Genetics of Thyroid Disorders." Endocrines 3, no. 2 (April 13, 2022): 198–213. http://dx.doi.org/10.3390/endocrines3020018.

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Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated or part of a syndrome. Briefly, we will review the physiology and pathophysiology of the thyroid gland and its disorders. The aim of this chapter is to describe genetic abnormalities of the thyroid gland.

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Waters, A. M., B. P. Bradley, and K. Mogg. "Biased attention to threat in paediatric anxiety disorders (generalized anxiety disorder, social phobia, specific phobia, separation anxiety disorder) as a function of ‘distress’versus‘fear’ diagnostic categorization." Psychological Medicine 44, no. 3 (April 17, 2013): 607–16. http://dx.doi.org/10.1017/s0033291713000779.

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BackgroundStructural models of emotional disorders propose that anxiety disorders can be classified into fear and distress disorders. Sources of evidence for this distinction come from genetic, self-report and neurophysiological data from adults. The present study examined whether this distinction relates to cognitive processes, indexed by attention bias towards threat, which is thought to cause and maintain anxiety disorders.MethodDiagnostic and attention bias data were analysed from 435 children between 5 and 13 years of age; 158 had principal fear disorder (specific phobia, social phobia or

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Gorchkhanova, Z. K., E. A. Nikolaeva, S. V. Bochenkov, and E. D. Belousova. "Clinical manifestations of Angelman syndrome in children." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, no. 6 (January 19, 2022): 63–70. http://dx.doi.org/10.21508/1027-4065-2021-66-6-63-70.

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Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads to a violation of the expression of the UBE3A gene.Purpose. To analyze clinical manifestations in children with Angelman syndrome to identify early-onset and characteristic clinical signs.Characteristics of children and research methods. The study included 60 children. In all cases, Angelman syndrom

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Lelii, Mara, Elena Baggi, Laura Senatore, Maria Francesca Bedeschi, Robertino Dilena, Maria Iascone, Silvana Gangi, Paola Marchisio, and Maria Francesca Patria. "Familial Sleep Disorders in Unknown Genetic Syndrome." Journal of Pediatric Genetics 09, no. 02 (October 21, 2019): 132–36. http://dx.doi.org/10.1055/s-0039-1698808.

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AbstractSleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the u

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Lense, Miriam D., Eniko Ladányi, Tal-Chen Rabinowitch, Laurel Trainor, and Reyna Gordon. "Rhythm and timing as vulnerabilities in neurodevelopmental disorders." Philosophical Transactions of the Royal Society B: Biological Sciences 376, no. 1835 (August 23, 2021): 20200327. http://dx.doi.org/10.1098/rstb.2020.0327.

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Millions of children are impacted by neurodevelopmental disorders (NDDs), which unfold early in life, have varying genetic etiologies and can involve a variety of specific or generalized impairments in social, cognitive and motor functioning requiring potentially lifelong specialized supports. While specific disorders vary in their domain of primary deficit (e.g. autism spectrum disorder (social), attention-deficit/hyperactivity disorder (attention), developmental coordination disorder (motor) and developmental language disorder (language)), comorbidities between NDDs are common. Intriguingly,

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Guzeva, Valentina I., Yulia A. Eremkina, Oksana V. Guzeva, Viktoriya V. Guzeva, Damir A. Malekov, and Viktoriya A. Vedernikova. "Speech disorders in genetically determined forms of epilepsy in children. Clinical observations." Russian Military Medical Academy Reports 42, no. 4 (December 9, 2023): 437–44. http://dx.doi.org/10.17816/rmmar585236.

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BACKGROUND: Speech disorders in children are one of the pressing problems of child neurology. In recent years, much attention has been paid to studying the genetic aspects of the development of speech disorders in children with epilepsy. Speech function in childhood is vulnerable, and its violation has a number of significant consequences. Specialists from different disciplines focus on specific aspects of speech disorders. Speech therapists consider speech disorders based on linguistic criteria, psychologists evaluate the psychological characteristics of children with speech disorders. The ra

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Sorasio, Lorena, Luisa Franceschi, Lisa Pavinato, and Antonella Peduto. "Quando il disturbo del neurosviluppo ha un substrato genetico: un caso di sindrome di Kleefstra." Medico e Bambino pagine elettroniche 24, no. 4 (April 30, 2021): 114–17. http://dx.doi.org/10.53126/mebxxiv114.

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Abstract (sommario):

Neurodevelopmental disorders (ND) have an important prevalence in children; intellectual disability in particular occurs in a heterogeneous group of genetic conditions. The evolution of molecular cytogenetic techniques and the recent advances in exome sequencing technologies have enormously implemented the possibilities of diagnostic classification in children with cognitive disabilities due to genetics. The paper presents the case of a patient with a neurodevelopmental disorder who was diagnosed with Kleefstra (KS) syndrome, caused by a point mutation de novo of EHMT1 gene.

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BOLTON, DEREK, THALIA C. ELEY, THOMAS G. O'CONNOR, SEAN PERRIN, SOPHIA RABE-HESKETH, FRÜHLING RIJSDIJK, and PATRICK SMITH. "Prevalence and genetic and environmental influences on anxiety disorders in 6-year-old twins." Psychological Medicine 36, no. 3 (November 17, 2005): 335–44. http://dx.doi.org/10.1017/s0033291705006537.

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Background. Prevalence of childhood anxiety disorders at specific ages and genetic etiological influences on anxiety disorders in young children have been little studied. The present study reports prevalence estimates in a community sample of 6-year-old twins, and patterns of genetic and environmental influences on these early-onset anxiety disorders.Method. Using a two-phase design 4662 twin-pairs were sampled and 854 pairs were assessed in the second phase by maternal-informant diagnostic interview using DSM-IV criteria.Results. The most common conditions were separation anxiety disorder (SA

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Biesecker, Leslie G. "Clinical Commentary: The Law of Unintended Ethics." Journal of Law, Medicine & Ethics 25, no. 1 (1997): 16–18. http://dx.doi.org/10.1111/j.1748-720x.1997.tb01390.x.

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The law of unintended consequences is generally applied to technological advances that solve one problem but cause another. In this view, the problem created may be worse than that which was solved, hence the law is used as an argument against technological advances. Concern about intent and consequence comes to mind when reading the article by Ronald Green on parental decision making and prenatal genetics. Green's analysis, combined with the realities of genetic practice, raises questions about parental power, eugenics, and the interests of children affected by genetic or congenital disorders

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Banu, Meraj, Akbar Ali Khan Pathan, and K. V. Chaitanya. "Diagnostics for Genetically Inherited Disorders: From Cytogenetics to Genomics Technologies- A Review." Biomedical and Pharmacology Journal 16, no. 2 (June 30, 2023): 639–51. http://dx.doi.org/10.13005/bpj/2646.

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The frequent occurrence of chromosomal abnormalities in humans is one of the main factors responsible for the birth of children with disabilities. More than 7.6 million infants per year are diagnosed with severe genetic abnormalities. An increase in genetic abnormalities among children may be attributed to women suffering from hormonal disorders. Genetic malformations can either be hereditary or spontaneous due to the exposure of germinal cells to toxins and mutagens or even oxidative stress. Most genetic disorders lack proper treatment. However, proper counseling, therapy, and medication can

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Folstein, Susan E., and Joseph Piven. "Etiology of Autism: Genetic Influences." Pediatrics 87, no. 5 (May 1, 1991): 767–73. http://dx.doi.org/10.1542/peds.87.5.767.

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Infantile autism was first described by Kanner in 1943.1 Based on the observation that symptoms often began shortly after birth and always by two or three years of age, Kanner believed that autism was caused by an unknown, inborn defect. Because this syndrome was so severe and peculiar, it seemed unlikely to be an understandable outcome of a child's life experiences. In the years since Kanner first described this disorder, research findings have supported his initial interpretations. It is now generally accepted that autism has a biologic cause, and considerable research has been carried out w

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Volgina, S. Ya, A. R. Ahmetova, L. K. Shaidukova, N. V. Zhurkova, and G. A. Kulakova. "The role of risk factors in the development of speech and language disorders in preschool children." Kazan medical journal 102, no. 4 (August 8, 2021): 537–44. http://dx.doi.org/10.17816/kmj2021-537.

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The article provides an overview of modern literature on the risk factors for the development of speech and language, which can be taken into account by pediatricians when forming a high-risk group of the corresponding contingent of preschool children. The leading risk factor for the development of speech/language disorders in children is childhood developmental brain disorders that arose in the prenatal, intrapartum and postnatal period of a child's life, which is often found in children with cerebral palsy, epilepsy, and after head injuries. The occurrence of disorders is greatly influenced

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Erbeli, Florina, Marianne Rice, and Silvia Paracchini. "Insights into Dyslexia Genetics Research from the Last Two Decades." Brain Sciences 12, no. 1 (December 26, 2021): 27. http://dx.doi.org/10.3390/brainsci12010027.

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Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In

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Kalibataitė, Irma, Vilius Rutkauskas, Eglė Preikšaitienė, and Vaidutis Kučinskas. "Establishing genetic diagnosis of intellectual disability in children: diagnostic yield of various genetic approaches." Acta medica Lituanica 19, no. 4 (January 31, 2013): 409–15. http://dx.doi.org/10.6001/actamedica.v19i4.2550.

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Background. The aim of our investigation was to examine aetiology of intellectual disability / developmental delay (ID / DD) in children referred to the Centre for Medical Genetics at the Vilnius University Hospital Santariskiu Clinics during 2009 and to evaluate the diagnostic yield of current genetic approaches. Materials and methods. In a retrospective investigation, medical records of 217 patients younger than 18 years of age were reviewed with a focus on the family history and pedigree, personal history, physical examination, imaging and laboratory diagnostics. Patients with established g

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Glotov, O. S., A. N. Chernov, P. A. Suchko, Yu A. Eismont, and L. A. Mayorova. "Formation of cognitive processes in children with autism. Part I. Epigenetic mechanisms." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, no. 1 (March 7, 2024): 34–44. http://dx.doi.org/10.21508/1027-4065-2024-69-1-34-44.

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Abstract (sommario):

Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2 % of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about epigenetic mechanisms wh

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Snetkov, A. I. "Diagnosis of genetic forms of rickets in children." N.N. Priorov Journal of Traumatology and Orthopedics 1, no. 3 (September 15, 1994): 30–33. http://dx.doi.org/10.17816/vto105072.

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Results of examinations of 121 children with genetic forms of rickets were used to develop criteria for the diagnosis and differential diagnosis of vitamin D-resistant and vitamin D-dependent rickets, renal tubilar acidosis, and de ToniDebreFanconi's disease. The severity of genetic forms of rickets was found related to manifestation of metabolic disorders. 'Triggering mechanisms of mineral metabolism disorders in a child's body were revealed, which were related to abnonnal vitamin D metabolism in cases with vitamin D-resistant and negatice rickets and to genetic defects of the proximal and di

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Mountford, Hayley S., and Dianne F. Newbury. "The genomic landscape of language: Insights into evolution." Journal of Language Evolution 3, no. 1 (December 8, 2017): 49–58. http://dx.doi.org/10.1093/jole/lzx019.

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Abstract (sommario):

Abstract Studies of severe, monogenic forms of language disorders have revealed important insights into the mechanisms that underpin language development and evolution. It is clear that monogenic mutations in genes such as FOXP2 and CNTNAP2 only account for a small proportion of language disorders seen in children, and the genetic basis of language in modern humans is highly complex and poorly understood. In this review, we examine why we understand so little of the genetic landscape of language disorders, and how the genetic background of an individual greatly affects the way in which a genet

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Neumann, Alexander, Ilja M. Nolte, Irene Pappa, Tarunveer S. Ahluwalia, Erik Pettersson, Alina Rodriguez, Andrew Whitehouse, et al. "A genome-wide association study of total child psychiatric problems scores." PLOS ONE 17, no. 8 (August 22, 2022): e0273116. http://dx.doi.org/10.1371/journal.pone.0273116.

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Abstract (sommario):

Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. We analyzed 6,844,199 common SNPs in 38,418 school-aged children from 20 population-based cohorts participating in the EAGLE consortium. The SNP heritability of total psychiatric problems was 5.4% (SE = 0.01) and two loci reached genome-wide significance: rs10767094 and rs202005905. We

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Rogers, Maureen. "Nail manifestations of some important genetic disorders in children." Dermatologic Therapy 15, no. 2 (June 2002): 111–20. http://dx.doi.org/10.1046/j.1529-8019.2002.01515.x.

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Karmiloff-Smith, A., D. D'Souza, T. M. Dekker, J. Van Herwegen, F. Xu, M. Rodic, and D. Ansari. "Genetic and environmental vulnerabilities in children with neurodevelopmental disorders." Proceedings of the National Academy of Sciences 109, Supplement_2 (October 8, 2012): 17261–65. http://dx.doi.org/10.1073/pnas.1121087109.

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Andersson, Nadine G., Maria Rossing, Marcus Fager Ferrari, Migle Gabrielaite, Eva Leinøe, Rolf Ljung, Annika Mårtensson, Eva Norström, and Eva Zetterberg. "Genetic screening of children with suspected inherited bleeding disorders." Haemophilia 26, no. 2 (March 2020): 314–24. http://dx.doi.org/10.1111/hae.13948.

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Hildebrand, Michael S., Victoria E. Jackson, Thomas S. Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O. Braden, Samantha Turner, et al. "Severe childhood speech disorder." Neurology 94, no. 20 (April 28, 2020): e2148-e2167. http://dx.doi.org/10.1212/wnl.0000000000009441.

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Abstract (sommario):

ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).MethodsPrecise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression

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