Autism: Screening of inborn errors of metabolism and unexpected results / Asl? ?NCI in Autism Research, 14-5 (May 2021)  

Public ISBD [article]  inAutism Research > 14-5 (May 2021) . - p.887-896 Titre : Autism: Screening of inborn errors of metabolism and unexpected results Type de document : Texte imprimé et/ou numérique Auteurs : Asl? ?NCI, Auteur ; Ahmet ÖZASLAN, Auteur ; ?lyas OKUR, Auteur ; Gürsel BIBEROGLU, Auteur ; Esra GUNEY, Auteur ; Fatih Süheyl EZGÜ, Auteur ; Leyla TÜMER, Auteur ; Elvan ISERI, Auteur Article en page(s) : p.887-896 Langues : Anglais (eng) Mots-clés : autism  consanguineous marriages  inborn errors of metabolism  metabolic screening  unexpected results Index. décimale : PER Périodiques Résumé : In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of 247 patients who were referred from pediatric psychiatric to pediatric metabolism outpatient clinics due to further evaluation of autism spectrum disorders (ASD) were examined. Among them, 237 patients were evaluated for IEM leading to ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin and neutrotransmitter disorders, biotinidase deficiency, Smith-Lemni-Opitz syndrome, disorders of cerebral creatine metabolism, urea cycle defects, homocystinuria, purine-pyrimidine metabolism disorders, mitochondrial disorders, cerebrotendinous xantomatosis, mucopolysaccaridosis, and glucose 6 phosphate dehydrogenase deficiency were screened with complete blood counts, complete biochemical analyses, homocysteine levels, an arterial blood gase, and metabolic investigations. Six patients were diagnosed as follows: one with phenylketonuria (PKU), one with cerebral creatine deficiency, one with hypobetalipoproteinemia, one with glycogen storage disease type IX-a, one with dihydropyrimidine dehydrogenase deficiency, and one with succinic semialdehyde dehydrogenase deficiency (SSADHD). Forty-six patients screened for IEM were from consanguineous families, among them, one was diagnosed with FKU and the other was with SSADHD. It would not be expected to find PKU in a 5-year-old patient as a result of newborn screening, but she could not been screened due to being a refugee. The diagnosed diseases were rare presentations of the diseases and furthermore, the diagnosis of hypobetalipoproteinemia and glycogen storage disease type IX-a were surprising with the only presentation of ASDs. LAY SUMMARY: It is well-known that some types of inborn errors of metabolism (IEM) may present with that of autism spectrum disorders (ASDs). This study suggests that in countries where consanguinity marriages are common such as Turkey and refugees whose escaped from neonatal screening are present, patients with ASD should be screened for IEMs. The results can surprise the physicians with a very rare cause of autism that has never been thought. Autism Res 2021, 14: 887-896. © 2021 International Society for Autism Research, Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2486 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 [article] Autism: Screening of inborn errors of metabolism and unexpected results [Texte imprimé et/ou numérique] / Asl? ?NCI, Auteur ; Ahmet ÖZASLAN, Auteur ; ?lyas OKUR, Auteur ; Gürsel BIBEROGLU, Auteur ; Esra GUNEY, Auteur ; Fatih Süheyl EZGÜ, Auteur ; Leyla TÜMER, Auteur ; Elvan ISERI, Auteur . - p.887-896. Langues : Anglais (eng) in Autism Research > 14-5 (May 2021) . - p.887-896 Mots-clés : autism  consanguineous marriages  inborn errors of metabolism  metabolic screening  unexpected results Index. décimale : PER Périodiques Résumé : In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of 247 patients who were referred from pediatric psychiatric to pediatric metabolism outpatient clinics due to further evaluation of autism spectrum disorders (ASD) were examined. Among them, 237 patients were evaluated for IEM leading to ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin and neutrotransmitter disorders, biotinidase deficiency, Smith-Lemni-Opitz syndrome, disorders of cerebral creatine metabolism, urea cycle defects, homocystinuria, purine-pyrimidine metabolism disorders, mitochondrial disorders, cerebrotendinous xantomatosis, mucopolysaccaridosis, and glucose 6 phosphate dehydrogenase deficiency were screened with complete blood counts, complete biochemical analyses, homocysteine levels, an arterial blood gase, and metabolic investigations. Six patients were diagnosed as follows: one with phenylketonuria (PKU), one with cerebral creatine deficiency, one with hypobetalipoproteinemia, one with glycogen storage disease type IX-a, one with dihydropyrimidine dehydrogenase deficiency, and one with succinic semialdehyde dehydrogenase deficiency (SSADHD). Forty-six patients screened for IEM were from consanguineous families, among them, one was diagnosed with FKU and the other was with SSADHD. It would not be expected to find PKU in a 5-year-old patient as a result of newborn screening, but she could not been screened due to being a refugee. The diagnosed diseases were rare presentations of the diseases and furthermore, the diagnosis of hypobetalipoproteinemia and glycogen storage disease type IX-a were surprising with the only presentation of ASDs. LAY SUMMARY: It is well-known that some types of inborn errors of metabolism (IEM) may present with that of autism spectrum disorders (ASDs). This study suggests that in countries where consanguinity marriages are common such as Turkey and refugees whose escaped from neonatal screening are present, patients with ASD should be screened for IEMs. The results can surprise the physicians with a very rare cause of autism that has never been thought. Autism Res 2021, 14: 887-896. © 2021 International Society for Autism Research, Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2486 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444

Immune System and Neurotrophic Factors in Autism / Elvan ISERI  

Public ISBD in Autism - A Neurodevelopmental Journey from Genes to Behaviour / Valsamma EAPEN   Titre : Immune System and Neurotrophic Factors in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Elvan ISERI, Auteur ; Esra GUNEY, Auteur Année de publication : 2011 Importance : p.289-298 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/21798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143 in Autism - A Neurodevelopmental Journey from Genes to Behaviour / Valsamma EAPEN   Immune System and Neurotrophic Factors in Autism [Texte imprimé et/ou numérique] / Elvan ISERI, Auteur ; Esra GUNEY, Auteur . - 2011 . - p.289-298. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/21798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143

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Increased Serum Levels of Epidermal Growth Factor in Children with Autism / Elvan ISERI in Journal of Autism and Developmental Disorders, 41-2 (February 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.237-241 Titre : Increased Serum Levels of Epidermal Growth Factor in Children with Autism Type de document : Texte imprimé et/ou numérique Auteurs : Elvan ISERI, Auteur ; Esra GUNEY, Auteur ; Mehmet Fatih CEYLAN, Auteur ; Ayşegül YUCEL, Auteur ; Arzu ARAL, Auteur ; Sahin BODUR, Auteur ; Sahnur SENER, Auteur Année de publication : 2011 Article en page(s) : p.237-241 Langues : Anglais (eng) Mots-clés : Autism  Developmental disorders  Epidermal growth factor  Growth factors Index. décimale : PER Périodiques Résumé : The etiology of autism is unclear, however autism is considered as a multifactorial disorder that is influenced by neurological, environmental, immunological and genetic factors. Growth factors, including epidermal growth factor (EGF), play an important role in the celluler proliferation and the differentiation of the central and peripheral nervous system. In this study we hypothesized that EGF may play a role in the pathophysiology of autism and examined serum EGF levels in children with autism. We measured serum levels of EGF in the 27 autistic children and 28 age- matched normal controls. The serum levels of EGF in the subjects with autism were significantly higher than those of normal control subjects. However, there were no correlations between serum EGF levels and clinical variables in the subjects with autism. This is the first report demonstrating the increased serum levels of EGF in children with autism. This study suggests that increased levels of EGF might have an importance in the pathophysiology of autism. En ligne : http://dx.doi.org/10.1007/s10803-010-1046-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117 [article] Increased Serum Levels of Epidermal Growth Factor in Children with Autism [Texte imprimé et/ou numérique] / Elvan ISERI, Auteur ; Esra GUNEY, Auteur ; Mehmet Fatih CEYLAN, Auteur ; Ayşegül YUCEL, Auteur ; Arzu ARAL, Auteur ; Sahin BODUR, Auteur ; Sahnur SENER, Auteur . - 2011 . - p.237-241. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.237-241 Mots-clés : Autism  Developmental disorders  Epidermal growth factor  Growth factors Index. décimale : PER Périodiques Résumé : The etiology of autism is unclear, however autism is considered as a multifactorial disorder that is influenced by neurological, environmental, immunological and genetic factors. Growth factors, including epidermal growth factor (EGF), play an important role in the celluler proliferation and the differentiation of the central and peripheral nervous system. In this study we hypothesized that EGF may play a role in the pathophysiology of autism and examined serum EGF levels in children with autism. We measured serum levels of EGF in the 27 autistic children and 28 age- matched normal controls. The serum levels of EGF in the subjects with autism were significantly higher than those of normal control subjects. However, there were no correlations between serum EGF levels and clinical variables in the subjects with autism. This is the first report demonstrating the increased serum levels of EGF in children with autism. This study suggests that increased levels of EGF might have an importance in the pathophysiology of autism. En ligne : http://dx.doi.org/10.1007/s10803-010-1046-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117

Somatosensory Temporal Discrimination in Autism Spectrum Disorder / Dicle BUYUKTASKIN in Autism Research, 14-4 (April 2021)  

Public ISBD [article]  inAutism Research > 14-4 (April 2021) . - p.656-667 Titre : Somatosensory Temporal Discrimination in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Dicle BUYUKTASKIN, Auteur ; Elvan ISERI, Auteur ; Esra GUNEY, Auteur ; Zafer GUNENDI, Auteur ; Bulent CENGIZ, Auteur Article en page(s) : p.656-667 Langues : Anglais (eng) Mots-clés : autism spectrum disorders  neurophysiology  sensory processing  sensory profile  somatosensory temporal discrimination (STD) Index. décimale : PER Périodiques Résumé : Sensory differences are common in Autism Spectrum Disorder (ASD). While there is no well-accepted method to measure sensory differences objectively, there is accumulating evidence from recent years concerning sensory perception, including data concerning temporal discrimination thresholds of individuals with ASD as measured by different measures. The somatosensory temporal discrimination (STD) test measures the threshold at which an individual can temporally discriminate multiple tactile stimuli delivered in succession. We aimed to investigate tactile perception in ASD and hypothesized that children with ASD have impaired STD related to their subjective sensory symptoms and daily difficulties. Thirty adolescents with ASD and 30 typically developed subjects were recruited. The Childhood Autism Rating Scale, Strengths and Difficulties Questionnaire, and Adolescent/Adult Sensory Profile were implemented before STD evaluation. Average somatosensory detection (1.48?±?0.42) and discrimination thresholds (112.70?±?43.45) of the children with ASD were significantly higher (P =?0.010, P =?0.001, respectively) than those of the controls (1.18?±?0.42, 79.95?±?31.60, respectively). Sensory seeking scores of the ASD group (40.8?±?7.60) were significantly lower (P =?0.024) than those of the control group (45.83?±?9.17). However, the psychophsycal thresholds did not have any statistically significant relationships with subjective sensory symptoms or daily difficulties. This study demonstrates impaired sensory processing in ASD evaluated by STD and its lack of relationship with subjective sensory symptoms and daily difficulties. This psychophysical evidence of increased STD thresholds and decreased sensory seeking profile supports the disturbances in the regulation of sensory processing in ASD. LAY SUMMARY: Sensory differences are common in autism; however, there is no well-accepted method to measure them objectively. This study aims to investigate somatosensory differences and their relation with sensory and emotional/behavioral difficulties of children with autism. We show that autistic children have higher tactile discrimination thresholds and fewer sensory seeking behaviors. This supports the presence of impairments in sensory processing in autism. Measuring the sensory differences may help understanding clinical symptoms and neurobiological underpinings of autism. Autism Res 2021, 14: 656-667. © 2021 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443 [article] Somatosensory Temporal Discrimination in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Dicle BUYUKTASKIN, Auteur ; Elvan ISERI, Auteur ; Esra GUNEY, Auteur ; Zafer GUNENDI, Auteur ; Bulent CENGIZ, Auteur . - p.656-667. Langues : Anglais (eng) in Autism Research > 14-4 (April 2021) . - p.656-667 Mots-clés : autism spectrum disorders  neurophysiology  sensory processing  sensory profile  somatosensory temporal discrimination (STD) Index. décimale : PER Périodiques Résumé : Sensory differences are common in Autism Spectrum Disorder (ASD). While there is no well-accepted method to measure sensory differences objectively, there is accumulating evidence from recent years concerning sensory perception, including data concerning temporal discrimination thresholds of individuals with ASD as measured by different measures. The somatosensory temporal discrimination (STD) test measures the threshold at which an individual can temporally discriminate multiple tactile stimuli delivered in succession. We aimed to investigate tactile perception in ASD and hypothesized that children with ASD have impaired STD related to their subjective sensory symptoms and daily difficulties. Thirty adolescents with ASD and 30 typically developed subjects were recruited. The Childhood Autism Rating Scale, Strengths and Difficulties Questionnaire, and Adolescent/Adult Sensory Profile were implemented before STD evaluation. Average somatosensory detection (1.48?±?0.42) and discrimination thresholds (112.70?±?43.45) of the children with ASD were significantly higher (P =?0.010, P =?0.001, respectively) than those of the controls (1.18?±?0.42, 79.95?±?31.60, respectively). Sensory seeking scores of the ASD group (40.8?±?7.60) were significantly lower (P =?0.024) than those of the control group (45.83?±?9.17). However, the psychophsycal thresholds did not have any statistically significant relationships with subjective sensory symptoms or daily difficulties. This study demonstrates impaired sensory processing in ASD evaluated by STD and its lack of relationship with subjective sensory symptoms and daily difficulties. This psychophysical evidence of increased STD thresholds and decreased sensory seeking profile supports the disturbances in the regulation of sensory processing in ASD. LAY SUMMARY: Sensory differences are common in autism; however, there is no well-accepted method to measure them objectively. This study aims to investigate somatosensory differences and their relation with sensory and emotional/behavioral difficulties of children with autism. We show that autistic children have higher tactile discrimination thresholds and fewer sensory seeking behaviors. This supports the presence of impairments in sensory processing in autism. Measuring the sensory differences may help understanding clinical symptoms and neurobiological underpinings of autism. Autism Res 2021, 14: 656-667. © 2021 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443

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