Clinical Neuroscience

Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye1, YILMAZBAS Pınar2

JANUARY 30, 2021

Clinical Neuroscience - 2021;74(01-02)

DOI: https://doi.org/10.18071/isz.74.0067

Journal Article

Szöveg nagyítása:

-
+

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

AFFILIATIONS

  1. Health Science University, Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Pediatric Metabolism, Istanbul, Turkey
  2. Health Science University, Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Pediatrics, Istanbul, Turkey

COMMENTS

0 comments

Further articles in this publication

Clinical Neuroscience

Evaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations

EVRAN Sevket, KATAR Salim

Far lateral lumbar disc herniations (FLDH) consist approximately 0.7-12% of all lumbar disc herniations. Compared to the more common central and paramedian lumbar disc herniations, they cause more severe and persistent radicular pain due to direct compression of the nerve root and dorsal root ganglion. In patients who do not respond to conservative treatments such as medical treatment and physical therapy, and have not developed neurological deficits, it is difficult to decide on surgical treatment because of the nerve root damage and spinal instability risk due to disruption of facet joint integrity. In this study, we aimed to evaluate the effect of transforaminal epidural steroid injection (TFESI) on the improvement of both pain control and functional capacity in patients with FLDH. A total of 37 patients who had radicular pain caused by far lateral disc herniation which is visible in their lumbar magnetic resonance imaging (MRI) scan, had no neurological deficit and did not respond to conservative treatment, were included the study. TFESI was applied to patients by preganglionic approach. Pre-treatment Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) scores of the patients were compared with the 3rd week, 3rd month and 6th month scores after the procedure. The mean initial VAS score was 8.63 ± 0.55, while it was 3.84 ± 1.66, 5.09 ± 0.85, 4.56 ± 1.66 at the 3rd week, 3rd month and 6th month controls, respectively. This decrease in the VAS score was found statistically significant (p = 0.001). ODI score with baseline mean value of 52.38 ± 6.84 was found to be 18.56 ± 4.95 at the 3rd week, 37.41 ± 14.1 at the 3rd month and 34.88 ± 14.33 at the 6th month. This downtrend of pa­tient’s ODI scores was found statistically significant (p = 0.001). This study has demonstrated that TFESI is an effective method for gaining increased functional capacity and pain control in the treatment of patients who are not suitable for surgical treatment with radicular complaints due to far lateral lumbar disc hernia.

Clinical Neuroscience

Electrophysiological investigation for autonomic dysfunction in patients with myasthenia gravis: A prospective study

NALBANTOGLU Mecbure, AKALIN Ali Mehmet, GUNDUZ Aysegul, KIZILTAN Meral

Myasthenia gravis (MG) is an autoimmune disorder of neuromuscular transmission. Autonomic dysfunction is not a commonly known association with MG. We conducted this study to evaluate autonomic functions in MG & subgroups and to investigate the effects of acetylcholinesterase inhibitors. This study comprised 30 autoimmune MG patients and 30 healthy volunteers. Autonomic tests including sympathetic skin response (SSR) and R-R interval variation analysis (RRIV) was carried out. The tests were performed two times for patients who were under acetylcholinesterase inhibitors during the current assessment. The RRIV rise during hyperventilation was better (p=0.006) and Valsalva ratio (p=0.039) was lower in control group. The SSR amplitudes were lower thereafter drug intake (p=0.030). As much as time went by after drug administration prolonged SSR latencies were obtained (p=0.043).Valsalva ratio was lower in the AchR antibody negative group (p=0.033). The findings showed that both ocular/generalized MG patients have a subclinical parasympathetic abnormality prominent in the AchR antibody negative group and pyridostigmine has a peripheral sympathetic cholinergic noncumulative effect.

Clinical Neuroscience

Neuroscience highlights: The mirror inside our brain

KRABÓTH Zoltán, KÁLMÁN Bernadette

Over the second half of the 19th century, numerous theories arose concerning mechanisms involved in understanding of action, imitative learning, language development and theory of mind. These explorations gained new momentum with the discovery of the so called “mirror neurons”. Rizzolatti’s work inspired large groups of scientists seeking explanation in a new and hitherto unexplored area of how we perceive and understand the actions and intentions of others, how we learn through imitation to help our own survival, and what mechanisms have helped us to develop a unique human trait, language. Numerous studies have addressed these questions over the years, gathering information about mirror neurons themselves, their subtypes, the different brain areas involved in the mirror neuron system, their role in the above mentioned mechanisms, and the varying consequences of their dysfunction in human life. In this short review, we summarize the most important theories and discoveries that argue for the existence of the mirror neuron system, and its essential function in normal human life or some pathological conditions.

Clinical Neuroscience

Matrix metalloproteinases and their tissue inhibitors in relapsing remitting multiple sclerosis: Possible markers and treatment agents

SANLI Arzu, OZTURK Musa, SOYSAL Aysun, DOVENTAS Yasemin, BASOGLU Fulya, GOZUBATIK-CELIK R. Gokcen, BAYBAS Sevim

Matrix metalloproteinases (MMPs), which are synthesized by many cell groups and responsible for the destruction of matrix proteins, and endogen tissue inhibitors of MMPs (TIMPs) have a role in the pathogenesis of Multiple Sclerosis (MS) by affecting the blood-brain barrier. We aimed to investigate the role of MMPs and TIMPs in the immunopathogenesis and in the course of multiple sclerosis (MS). We enrolled 25 relapsing remitting MS patients, who had a definite MS diagnosis according to McDonald criteria and 25 healthy subjects similar for age and gender as control group. MMP-9- and TIMP-1 levels were measured twice in patient group (one time during an attack and one in remission) and once in healthy subjects. MMP-9- and TIMP-levels of patients during attack and remission period and MMP-9/TIMP-1 ratio were found significantly higher than in the control subjects. In patient group MMP-9 and TIMP-1 levels and MMP-9/TIMP-1 ratio during attacks were not significantly different than during remission period. However, when subdivided according to their number of attacks, patients with 2 attacks had significantly higher levels during attack period comparing to remission period (p<0.05); in case of patients with more than 2 attacks did not have a statistically significant difference in attack and remission periods. Matrix metalloproteinases are important actors in MS immunopathogenesis, particularly in the early period and inhibitor agents for these enzymes can be used as a treatment option.

Clinical Neuroscience

Retinal morphological changes during the two years of follow-up in Parkinson’s disease

ATUM Mahmut, DEMIRYÜREK Enes Bekir

The study aims to investigate the relationship between the progression of idiopathic Parkinson’s disease (IPD) and retinal morphology. The study was carried out with 23 patients diagnosed with early-stage IPD (phases 1 and 2 of the Hoehn and Yahr scale) and 30 age-matched healthy controls. All patients were followed up at least two years, with 6-month intervals (initial, 6th month, 12th month, 18th month, and 24th month), and detailed neurological and ophthalmic examinations were performed at each follow-up. Unified Parkinson’s Disease Rating Scale part III (UPDRS Part III) scores, Hoehn and Yahr (H&Y) scores, best-corrected visual acuity (BCVA), intraocular pressure (IOP) measurement, central macular thickness (CMT) and retinal nerve fiber layer (RNFL) thickness were analyzed at each visit. The average age of the IPD and control groups was 43.96 ± 4.88 years, 44.53 ± 0.83 years, respectively. The mean duration of the disease in the IPD group was 7.48 ± 5.10 months at the start of the study (range 0-16). There was no statistically significant difference in BCVA and IOP values between the two groups during the two-year follow-up period (p> 0.05, p> 0.05, respectively). Average and superior quadrant RNFL thicknesses were statistically different between the two groups at 24 months and there was no significant difference between other visits (p=0.025, p=0.034, p> 0.05, respectively). There was no statistically significant difference in CMT between the two groups during the follow-up period (p> 0.05). Average and superior quadrant RNFL thicknesses were significantly thinning with the progression of IPD.

All articles in the issue

Related contents

Clinical Neuroscience

Is there any difference in mortality rates of atrial fibrillation detected before or after ischemic stroke?

CIGDEM ILERI, ZEKERIYA DOGAN, BESTE OZBEN, IPEK MIDI, NEVIN PAZARCI

Atrial fibrilla- tion diagnosed after stroke (AFDAS) is a new term used for AF resulting from autonomic dysregulation. It is associated with a lower stroke recurrence compared to patients with known AF before a stroke (KAF). The aim of the study was to explore the characteristics and mortality rates in AFDAS patients. 134 ischemic stroke patients (66.1±14.2 years old, n=73 male) were consecutively included in the study.

Clinical Neuroscience

Factors influencing the level of stigma in Parkinson’s disease in western Turkey

DEMIRYUREK Esra, DEMIRYUREK Enes Bekir

Stigma is a widespread phenomenon in Parkinson’s disease (PD) and has been shown to affect the quality of life of individuals. This study aims to assess the level of stigma and identify the factors contributing to stigma in patients with PD in Turkey. A total of 142 patients diagno¬sed with PD between June 2022 and March 2023 were included in the study. Sociodemographic data were collected using a sociodemographic information form.

Clinical Neuroscience

Neuropathic pain and mood disorders in earthquake survivors with peripheral nerve injuries

HALIL Can ALAYDIN, GUL Melisa BOZDOGAN, RUMEYSA PALTACI, ZULFIKAR ARLIER, HALIT FIDANCI, MEHMET YILDIZ

Natural disasters, such as earthquakes, frequently result in mood disorders among affected individuals. It is established that neuropathic pain arising from traumatic neuropathies is also linked to mood disorders. This study investigates the influence of neuropathic pain on the development of mood disorders in earthquake survivors with peripheral nerve injuries, following the earthquake centered in Kahramanmaraş on February 6, 2023.

Journal of Nursing Theory and Practice

[Decreasing Fever now and then: The Past Living with us]

SIMON János

[To assess lay parents’ knowledge and attitudes towards fever; to find out to what extent they know and use fever control recommendations for their children; to assess whether the perceptions of parents who manage their children’s fever independently have changed. And to put this snapshot into context, it summaries how the perception of fever has changed through history to the present day.

The cross-sectional study was conducted between November 12, 2022 and December 24, 2022 through self-constructed online questionnaire among non-medical parents.

Most parents are not even aware of the basic concepts. If they do not have to manage their own fever, but their child’s, they will begin to reduce the fever much sooner. 58% of those surveyed also use physical methods (compresses, cooling baths) in addition to medication. Many misconceptions about fever persist. There is an opinion among parents that it is better to consult a physician than to manage fever on your own.

Disseminating knowledge about fever and tackling misconceptions would be vital to reduce the burden of overused emergency care.]

Journal of Nursing Theory and Practice

[Simulation in the Practical Training of Nurses]

VIZVÁRI László

[The field of healthcare is constantly developing, and the role of nurses is of paramount importance in the optimal care and treatment of patients. Practical education for nurses is essential to acquire the necessary skills and knowledge to provide complex health care to patients. However, traditional hands-on teaching methods are time-consuming and sometimes offer limited opportunities to practice in varied and critical clinical situations.
This article reviews the place and benefits of simulation in the practical education of nurses. The simulation gives nurses the opportunity to practice handling different cases in a realistic, controlled environment, thus improving their decision-making skills and communication skills. After a brief historical overview, it will be presented what types of simulation tools and methods are available for the practical education of nurses and how they support the students’ knowledge acquisition and development.]