Poor Eye Contact Research Articles

De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

BackgroundSay–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males. It has been shown that mutations in the KAT6B gene, which is a lysine acetyltransferase-encoding gene, have been associated with SBBYS syndrome. All the known variants are dominant de novo mutations that result in protein truncation.Case presentationA 14-year-old Iranian Azeri boy with an intellectual disability, distinct dysmorphic facial features such as open-mouth expression, sparse medial eyebrows, widely spaced upward-slanted eyes, epicanthal folds, broad nasal bridge, low-set ears, anteverted ears, short philtrum, hypertelorism, microphthalmia is presented in this case study. Cryptorchidism was reported. Neurologically, the patient presented with poor eye contact, hypotonia, and speech difficulties. In the skeletal X-ray, underdeveloped kneecaps with some new features were observed.ConclusionWe present the first case of SBBYS syndrome in association with some new anomaly features in the Iranian population. Based on this diagnosis, we could provide the patient with a suitable plan of management as well as appropriate genetic counseling for his family.

Accelerated Course of Cerebral Adrenoleukodystrophy After Coronavirus Disease 2019 Infection

BackgroundCoronavirus disease 2019 (COVID-19) can not only infect the respiratory system but also affect the nervous system through the release of inflammatory factors. Our study aimed to investigate the effect of COVID-19 infection on cerebral adrenoleukodystrophy (ALD). MethodsChanges in the neurological symptoms of cerebral ALD after infection with COVID-19 from January 2022 to February 2023 were retrospectively analyzed. The primary assessment indicator was the Neurologic Function Scale (NFS) score. ResultsA total of 17 male patients with cerebral ALD were enrolled, with a median age of 101 months (80 to 151 months). Among them, 11 (11 of 17, 64.7%) developed an exacerbation of neurological symptoms after COVID-19 infection. Two patients with NFS = 0 started presenting with neurological symptoms after infection. Fifteen patients were in the advanced stage (NFS >1 and/or Loes score >9), of which nine did not progress to major functional disabilities (MFDs). Seven of the nine patients (77.8%) experienced an increase in NFS scores, ranging from 1 to 9 points, within two weeks of COVID-19 infection, with four of them experiencing MFDs. For the other six patients who had progressed to MFDs, there was not much room for further degeneration, so the NFS score did not increase after COVID-19 infection. No deaths related to COVID-19 infection occurred. ConclusionsCOVID-19 infection may aggravate neurological symptoms of cerebral ALD, particularly among patients who have not yet progressed to MFDs. Therefore, COVID-19 may accelerate the course of cerebral ALD, so protecting patients from infection is essential for maintaining the stability of the disease.

Steroid-induced Psychosis in a Patient without a Previous Psychiatric History

This is a 45-year-old Hispanic male with retinitis pigmentosa, no previous psychiatric history, and no known substance use disorder who was treated with 80 mg of oral prednisone, tapered off over 6 weeks before undergoing eye surgery. One week after completing the treatment, he went missing, and when he was found, he described visual and auditory hallucinations, as well as paranoid thoughts. He demonstrated a calm affect, flat mood, decreased expressiveness, poor eye contact, and fluent speech. The thought process was linear and goal-directed. Thought content was negative for hallucinations and paranoia, but delusional, with limited judgment and insight into his current situation. Negative suicidal or homicidal ideations. He was admitted to the hospital for further work up for encephalopathy. Images and laboratory results were irrelevant. The patient's encephalopathy completely resolved the following day, and no antipsychotic medications were administered. The psychiatric assessment was compatible with steroid-induced psychosis based on the acute onset, the brief psychotic episode with complete resolution of symptoms (5 days), precipitated by stressors (combined effects of an incapacitating disease). With this case presentation, we want to raise awareness among primary care physicians of the occurrence of steroid-induced psychosis and highlight the importance of patient education including their caregivers, as the cornerstone for an early recognition and prompt management of neuropsychiatric adverse events of glucocorticosteroids.

Ayurvedic Management of Comorbid State of Autism with Attention Deficit Hyperactivity Disorder w.s.r Unmada

Unmada a term used in Ayurveda, refers to a condition characterized by mental instability, restlessness and abnormal behaviors. It similar to modern day autism spectrum disorder (ASD) and attention deficit hyperactive disorder (ADHD). ASD and ADHD are neuro developmental and neuropsychiatric disorder. These disorders have shared genetic heritability and are both associated with shared impairment in social functioning and executive functioning. However, in the phenotypic presentation of the impairment which characterized ASD and ADHD. The fundamental principles of Ayuvedic management are to restore the balance of the Doshas. In the case of Unmada, particularly when comorbid with autism and ADHD, the focus on pacifying the aggravated Vata dosha. This can be achieved through a combination of dietary modification, lifestyle changed, Balpanchkarma and Marma therapies and Medhya Dravya. Aim and Objective: A case study of Ayurvedic management of comorbid state of Autism and Attention Deficit Hyperactivity Disorder w.s.r Unmaad. Material and Method: A 5-year-old female patient was come to the OPD of Kaumarbhritya Department, Rishikul Campus, UAU, Haridwar. With complain of difficulty in speaking as per development age, poor eye contact, hyperactive in nature with addiction of mobile in the last three year. This condition can be understood as Unmada. Treatment including with some Balpanchkarma and Marma therapies, and Ayurvedic formulations for 2-3 months. Result: There significant improvement in the condition of the patient. Ayurvedic intervention in this case reveals the true potential and efficacy of our Ayurvedic science.

A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review

Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. Methods: The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in March 2021 were extracted and analyzed. A literature search was implemented using Wanfang, China biology medicine disc, China national knowledge infrastructure, ClinVar, human gene mutation database (HGMD) and Pubmed databases with the key words "MRPS34" "MRPS34 gene" and "combined oxidative phosphorylation deficiency 32" (up to February 2023). Clinical and genetic features of COXPD32 were summarized. Results: A boy aged 1 year and 9 months was admitted due to developmental delay. He showed mental and motor retardation, and was below the 3rd percentile for height, weight, and head circumference of children of the same age and gender. He had poor eye contact, esotropia, flat nasal bridge, limbs hypotonia, holding instability and tremors. In addition, Grade Ⅲ/6 systolic murmur were heard at left sternal border. Arterial blood gases suggested that severe metabolic acidosis with lactic acidosis. Brain magnetic resonance imaging (MRI) showed multiple symmetrical abnormal signals in the bilateral thalamus, midbrain, pons and medulla oblongata. Echocardiography showed atrial septal defect. Genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. His parents carried a heterozygous variant, respectively. The child improved after treatment with energy support, acidosis correction, and "cocktail" therapy (vitaminB1, vitaminB2, vitaminB6, vitaminC and coenzyme Q10). A total of 8 cases with COXPD32 were collected through 2 English literature reviews and this study. Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia, followed by dystonia, lactic acidosis, ocular symptoms, microcephaly, constipation and dysmorphic facies(mild coarsening of facial features, small forehead, anterior hairline extending onto forehead,high and narrow palate, thick gums, short columella, and synophrys), 2 cases died of respiratory and circulatory failure, and 6 were still alive at the time of reporting, with an age range of 2 to 34 years. Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients. MRI in 7 cases manifested symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia. Urine organic acid test were all normal but 1 patient had alanine elevation. Five patients underwent respiratory chain enzyme activity testing, and all had varying degrees of enzyme activity reduction. Six variants were identified, 6 patients were homozygous variants, with c.322-10G>A was present in 4 patients from 2 families and 2 compound heterozygous variants. Conclusions: The clinical phenotype of COXPD32 is highly heterogenous and the severity of the disease varies from development delay, feeding difficulty, dystonia, high lactic acid, ocular symptoms and reduced mitochondrial respiratory chain enzyme activity in mild cases, which may survive into adulthood, to rapid death due to respiratory and circulatory failure in severe cases. COXPD32 needs to be considered in cases of unexplained acidosis, hyperlactatemia, feeding difficulties, development delay or regression, ocular symptoms, respiratory and circulatory failure, and symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia, and genetic testing can clarify the diagnosis.

Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report.

A 2.5-year-old boy presented to the paediatric neurology clinic with evidence of neurodevelopmental delays and intellectual disabilities. Recurrent eye blinking, generalized non-motor (absence) seizures, hyperactivity, and poor eye contact were revealed in the neurological examination. Some athetoid and dystonic movements were noticed. His electroencephalography (EEG) was very disturbed because of generalized spike-wave and slow-wave discharges. Based on these findings antiepileptic drugs were administered. His seizures slightly improved, but then relapsed with myoclonic and drop attacks. After 6 years of unbeneficial treatment, a genetic test was required. Whole-exome sequencing was conducted and identified a novel homozygous GAMT variant (NM_138924.2:c.391+5G>C). Treatment with oral creatine supplementation, ornithine, and sodium benzoate was administered. After 1.7 years of follow-up, the child was almost seizure-free with a remarkable reduction of epileptic activity on EEG. He demonstrated good-but not complete-behavioural and motor improvement due to delayed diagnosis and treatment. GAMT deficiency should be considered in differential diagnoses in children with neurodevelopmental regression along with drug-refractory epilepsy. A special concern is needed in Syria for such genetic disorders; regarding the high prevalence of consanguinity. Whole-exome sequencing and genetic analysis can be used to diagnose this disorder. We reported a novel GAMT variant to extend its mutation spectrum and provide an additional molecular marker for the definitive diagnosis of GAMT deficiency patients and prenatal diagnosis in the affected families.

COMMUNICATION SKILLS USED BY BULGARIAN GENERAL PRACTITIONERS DURING THE MEDICAL CONSULTATION

Background: The concept of doctor-patient communication develops from the idea that its main function is to gather information to the idea that it is an interpersonal relationship and interaction. Aim:To evaluate and analyze the opinion of general practitioners on the application of basic communication skills in medical practice in the therapeutic process and in the process of health education of the patient. Material/Methods: An empirical sociological representative survey was conducted among 190 randomly selected family physicians from two regions of the country. Results: Half of the GPs try to motivate patients, and significant differences were found regarding their sex, age and work experience (p=0.004). For chronically ill patients, 96% GPs discuss and offer advice related to healthy life style, daily activities (toilet, nutrition, mobility) or social activities. The doctors often give advice on nutrition (77%) and physical activity (71%). The majority of GPs (90%) report that they can motivate their patients to maintain a healthy lifestyle if there is even a small interest to do it. However, general practitioners still make insufficient use of active listening techniques, maintain poor eye contact during the interview, and perform other activities during the patient's hearing. In addition, physicians rarely involved the patientin discussions for therapy anddecision making. Conclusion: Surveyed physicians report to a significant extent that they are committed to the health education of their patients in the form of advice on a healthy life style. They manage to deal with many of the difficult communication situations in general practice.

The Cochlear Implant Outcome and Factors Associated of Pre-Operative among Prelingual Deafness Patients Under 3 Years and 6 Months Old in Rajavithi Hospital: A Single Center Experience

Background: The recent government announcement that fees for cochlear implants in prelingual patients will be reimbursed means that this treatment will be more accessible in the near future. The data in the present study would form the baseline for improving the care process in Rajavithi Hospital. Objective: To study the outcomes of cochlear implants in prelingual hearing loss patients younger than three years and six months, and to determine preoperative assessment factors that affect the outcomes. Materials and Methods: A retrospective review was conducted of the medical records of prelingual deafness patients younger than three years and six months that underwent cochlear implants between 2013 and 2019. Forty patients were enrolled, and their demographic data, preoperative assessment, and Category Auditory Performance (CAP) score outcomes were recorded. The preoperative factors affecting the CAP score at 2 years post-operation were analyzed. Results: A CAP score above 5 at two years after cochlear implant, considered to be good habilitation, was reported in 55% (22 cases). After further follow up, the number of patients whose CAP score reached 5 or more was 31 (77.5%). The mean age of diagnosis was 13.28±9.38 months, and the mean age at surgery was 25.73±9.74 months. The preoperative factors associated with poor CAP scores were Goldenhar syndrome, Waardenburg syndrome, Autism, small inner ear canal, and poor eye contact. The differences in preoperative factors between patients with CAP scores of 5 or more and those with scores less than 5 at two years after cochlear implant were not statistically significant. Conclusion: The outcomes of cochlear implant operations may be improved by early age at surgery, which will be assessed by the Newborn Hearing Screening policy. Preoperative assessment factors associated with poor outcomes were identified, but they were not statistically significant in the present study. Keywords: Cochlear implant; CAP score; Preoperative factors

Management of Autism Spectrum Disorder through Ayurveda - A Case Report

ABSTRACT Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders marked by impairment in varying degrees of social communication and interaction, repetitive behaviors, and restricted interests. Based on clinical characteristics, ASD can be correlated with Unmada mentioned in Ayurveda classics. In clinical practice, there is a paucity of standard treatment protocols and effective care for the prevention of ASD. The present case report discusses a 5-year-old male patient who presented with poor eye contact, no communication, no social skills, poor speech, repetitive play activity, hyperactivity, constipation, and sleep disturbances reported at Kaumarabhritya outpatient department. Diagnosis of ASD was established using the Indian Scale for Assessment of Autism (ISAA) test manual. Abhyanga with Ksheerbala Taila and Nasya with Saraswata Ghrita along with other internal medications i.e., Saraswata Ghrita, Ashwagandharista, Guduchi Churna, Madhuyashthi Churna, and Vacha Churna were given. Remarkable improvement was noted in overall ISAA scores as well as clinical improvement noted in poor eye contact, hyperactivity, and peer relationship. “Child Sleep Habit Questionnaire (CSHQ)” was used to assess the child’s sleep pattern and improvement was noted. The stress level of the parent also decreased which was assessed using the “Autism Parenting Stress Index.” No adverse effects were reported during the treatment period and follow-up.

A girl from Pakistan with atypical autism: Expert opinion and a therapeutic recommendation

Background: Autism disorders which are also known pervasive developmental disorders as are very complex and heterogeneous group of chronic disorders that marked by early impairment in socialization, communication, and behavior. Atypical autism associated with severe mental retardation is more likely to be associated with significant hyperactivity and behavioral abnormalities, and thus this association intensifies the therapeutic challenge of autism disorders. Patients and methods: The case of a girl with atypical autism disorder associated with cognitive impairment is described, and expert opinion is presented. Results: Early during October, 2022, the mother of 4 years and 10 months girl consulted us about the possible therapies for her girl who had the two major diagnostic features of autism (Poor response to own name and very poor eye contact. The girl was not interacting with anyone, and her speech was not developed. She also had repetitive movements mostly in the form of moving back and forth walk and some tapping of fingers with each other. Her motor development was acceptable, but she had poor understanding of commands and poor adaptive behaviors. The girl in this paper received the diagnosis of atypical autism with mental retardation, and was initially treated based on our extensive published experiences with treatment of autism disorders associated with cognitive impairment. Conclusion: The current expert opinion suggests treatment of children with atypical autism associated with mental retardation represents a therapeutic challenge and demands the judicious uses of several therapies including intramuscular cerebrolysin, piracetam, neuroleptics, The addition of baclofen has been suggested in the treatment of atypical associated with marked hyperactivity.

Impact of Screen Media Usage on Early Childhood Development

Objective: To see the impact of screen media usage on early childhood development.
 Study Design: Cross-sectional study.
 Place and Duration of study: Developmental Behavioural Paediatrics Department, Children’s Hospital and Institute of Child Health, Lahore Pakistan, from Oct to Dec 2020.
 Methodology: This study included 100 children with an age range between 15-36 months and divided into two groups. Group-1 was children with communication behaviour disorders (CBD) (n=50), and Group-2 was typically developing (TD)children (n=50). ShaMaq Developmental Screening Tool (SDST) was administered to children to screen their development.Childhood behaviours were rated on a scale of 0-10 on a Behaviour rating scale.
 Results: Children with CBD had poor eye contact, response to names, poor imitation, poor pointing and poor one-step command following (p<0.001) compared to typically developing children. Children with CBD had poor eating habits (p<0.01),were more restless (p<0.001), and had a developmental delay (p<0.001) on SDST as compared to the other group. In children with CBD, the extent of screen media exposure was significantly correlated with restlessness (p<0.05) and poor pointing(p<0.01).
 Conclusion: Exposure to screen media at an early age and prolonged use of screens can lead to adverse developmental outcomes and behaviour issues in children. This is more evident in children with CBD than in typically developing children.

Depression in a case of cerebral venous sinus thrombosis

Abstract Venous hemorrhagic infarct due to cerebral venous sinus thrombosis (CVST) is associated with poor prognosis. A 30-year-old woman was brought to the emergency room with an episode of generalized tonic–clonic seizure, diagnosed with CVST involving superior sagittal sinus and right transverse sinus, and referred to psychiatry in view of symptoms of depression. Mental state examination revealed poor eye contact, decreased personal hygiene, hopelessness, and worthlessness in thought content with a sad mood and affect. A diagnosis of organic depressive disorder was made and managed with sertraline 50 mg/day. Timely diagnosis along with methodical therapeutic management of CVST reduces mortality and morbidity. This case report highlights the importance of being familiar with varied presentations and neuropsychiatric manifestations of CVST.

GARBHOPAGHATAKARA BHAVA, PRECONCEPTIONAL RISK FACTORS FOR AUTISM: A CROSS-SECTIONAL SURVEY

Background: Garbhopaghatakara bhava, inclusive of altered maternal habits, diet, behaviours, and exposures in the perinatal period disrupt normal growth and development of the foetus. Autism spectrum disorders (ASD) are characterized by impaired social behaviour and communication skills. Many risk factors for ASD are identified but with no generalization of definite aetiology. Psychosocial anomalies in Ayurveda have been explained under the spectrum of unmada. Such diseases are said to present early in life and persist throughout the lifespan when associated with garbhopaghatakara bhava. This study explores the association of garbhopaghatakara bhava with the etiopathogenesis of ASD. Materials and Methods: Parents of 50 children who have ASD enquired about garbhopaghatakara bhava using a structured survey format. Results: Male preponderance (80%) with middle socio-economic strata (62%) predominated the study population. 48% had delayed speech and communication with poor eye contact, and 24% with delay in gross motor milestones. Garbhopaghatakara bhava leading to ashaya dushti (structural and functional variation in uterine milieu) were secondary to abortions (22%), hypothyroidism (10%), advanced parental age (64%), diabetes mellitus (8%). Amongst diet and activities in the mother, madhura- katu rasa (22%), eating less (28%), frequent meals (28%), day sleep (42%), night wakening (54%), excess travel (18%) and withhold of urges (16%) were seen. The genetic risk was sporadic (14%). Discussion: Garbhopaghatakara bhava can act by changing the epigenetics or disturbing the nutrition, psyche, and intellectual faculties in the child. Conclusion: Baseline information about the association of garbhopaghatakara bhava with ASD was identified. However, further analytical studies can provide substantial information and evidence.

Treatment of a girl from Tunisia with typical autism: Evidence-based medicine and expert opinion

Background: Autistic disorders which have been increasingly known as pervasive developmental disorders since the 1980s represent a heterogeneous group of disorders that share a significant impairment in communication and social interaction. Typical autism is not associated with significant mental retardation while patients having classical autism which is also called Kanner syndrome have normal or high intelligence. Patients and methods: The mother of an eight-year-old girl from Tunisia consulted us about the possible therapies for her daughter who was thought to have autistic features. Results: The girl had the two major diagnostic features autistic as she was not responding appropriately to her name by turning her toward the voice and she had poor eye contact. The girl can count from 1 to one thousand and knows the letters of Arabic, French, and English language. She knows the colors and some other vocabulary. The girl was hyperactive and spending some time in moving purposely inside the home. Based on our extensive published experiences with treatment of autistic disorders, we recommended an initial therapeutic course which included a course of intramuscular cerebrolysin. Conclusion: An expert therapeutic recommendation for the condition is described.

Treatment of a girl from Tunisia with typical autism: Evidence-based medicine and expert opinion

Background: Autistic disorders which have been increasingly known as pervasive developmental disorders since the 1980s represent a heterogeneous group of disorders that share a significant impairment in communication and social interaction. Typical autism is not associated with significant mental retardation while patients having classical autism which is also called Kanner syndrome have normal or high intelligence. Patients and methods: The mother of an eight-year-old girl from Tunisia consulted us about the possible therapies for her daughter who was thought to have autistic features. Results: The girl had the two major diagnostic features autistic as she was not responding appropriately to her name by turning her toward the voice and she had poor eye contact. The girl can count from 1 to one thousand and knows the letters of Arabic, French, and English language. She knows the colors and some other vocabulary. The girl was hyperactive and spending some time in moving purposely inside the home. Based on our extensive published experiences with treatment of autistic disorders, we recommended an initial therapeutic course which included a course of intramuscular cerebrolysin. Conclusion: An expert therapeutic recommendation for the condition is described.

Meningkatkan kemampuan rawat diri pada anak dengan autism spectrum disorders

Autism Spectrum Disorders (ASD) affects all aspects of individual development, including the ability to perform self-care activities, daily living, communication skills and social participation. In this case, the subject experienced a delay in speaking accompanied by symptoms of very poor eye contact, laughing excessively and without reason, speaking a language that was difficult to understand and often grasping the fingers of both hands and moving his feet which resulted in experiencing difficulties in carrying out his daily tasks such as bathing, dressing and eating is included as part of self-care. The assessments used were interviews, observation, Progressive Matrices Test for Children (CPM) and The Childhood Autism Rating Scale (CARS). The intervention given to improve the subject's self-care skills is the provision of positive reinforcement. The results of the intervention that has been given to the subject, behavioral therapy with positive reinforcement techniques are able to improve basic abilities in self-care, especially bathing to washing the face and head, dressing in button-up clothes and eating by not cleaning dirty hands on the clothes worn.

Results of Maladaptive Behavior Gender Characteristics Diagnostics in Primary School Children with Disabilities (Pilot Study)

IntroductionThe maladaptive children behavior analysis is important for determining effective methods of prevention and care.ObjectivesThe aim of the study was to identify general and gender-specific features of maladaptive behavior in children of primary school age with disabilities.MethodsThe sample included 77 children 8.6±1.03 years of age, among them 57 boys and 20 girls. Maladaptive children behavior was assessed using VABS. The statistical significance of the differences between variables was determined by Pearson`s Chi-squared test. Indicators of maladaptive behavior were assessed by calculation of frequency distribution and contingency tables.ResultsMaladaptive behavior features common for both genders included impulsivity, physical aggression, taunting, teasing and bullying, insensitivity to others, having poor eye contact. Having a hard time paying attention was statistically significantly more common among boys (p≤0.05). Boys were more likely to disobey and defy those in authority, to lie, cheat or steal. A specific feature of maladaptive behavior for girls was having eating difficulties and overly dependent behavior on caregivers or siblings. Comparative analysis of the additional VABS section results showed that obsession with thoughts or activities predominated among boys, as well as expression of thoughts that do not make sense. The following indicators were found only in boys: strange habits or ways (makes repetitive noises, odd hand movements, etc.) (14%), bizarre speech (conversations with self in public, repeating the same word or phrase, etc.) (7%).ConclusionsDescribed signs of children’s maladjustment can be used for the purposes of diagnostics, prevention and care.DisclosureNo significant relationships.

A Child with Developmental Regression and Electroencephalographic Abnormalities.

A 5-year-and-9-month-old boy was referred for investigation of underlying neurometabolic disease. Developmental milestones were normal until 2 years of age when his social and language skills started to regress following a mild infection. He became withdrawn, and stopped speaking and making eye contact. Family history revealed consanguineous parents and a healthy brother. Physical examination was normal except for speech delay, poor social interaction, and poor eye contact, but did not meet the criteria of autism spectrum disorder due to lack of restrictive, repetitive patterns. He did not have clinically evident seizures, but the electroencephalogram showed bilateral frontal and temporal paroxysmal activity that did not resolve with antiepileptic treatment. Brain magnetic resonance imaging was normal. The metabolic workup revealed normal plasma acylcarnitines, moderately increased blood lactate (4.3 mmol/L; reference interval: <2.1), striking increases of proline in plasma (2926 µmol/L; reference interval: 40 to 332) and urine (99 160 nmol/mg creatinine; reference interval: 0 to 250), and urinary 2-ketoglutarate (29 640 mmol/mol creatinine; reference interval: <80) and excretion of pyrrole-2-carboxylglycine (4160 mmol/mol creatinine; not detectable in healthy individuals).

Assessment of Workplace Discrimination against Individuals with Autism Spectrum Disorder (ASD)

Autism, also known as autism spectrum disorder (ASD), is a genetic / neurological condition, impacting about 2% of young children in the United States, which causes certain challenges in one’s communication, learning, socialization, and even stress management coping skills. Children with autism tend to demonstrate the presence of constrained, confined, or repetitive patterns of behaviors, activities, and interests. People with ASD learn differently than others, and their attention can be gained and maintained through repetition and routine. Individuals who have a mild or extreme form of ASD often experience more difficulty adjusting to changes in the work environment and society in general. Consequently, even though many individuals with ASD can perform their jobs successfully, they are often discriminated against and not afforded reasonable accommodations for them to gain and maintain steady employment. In this paper, we provide an overview of ASD to create awareness, along with recommendations so that more autistic adults can be employed in the workplace. Employers and manager should know that autism spectrum disorder involves a range of symptoms that cause difficulty communicating, such as flat affect (or diminished emotional expression), poor eye contact, and difficulty understanding nonverbal cues. These symptoms make it difficult to find and maintain employment, and people with autism regularly deal with discrimination and prejudice, both in and out of the workplace. Employers show less interest in hiring neurodivergent employees even if they are qualified and capable of performing the required work, and many do not provide sufficient accommodations to those that they do hire.

Abstract- Poster

Introduction:Autism is a neurodevelopmental disorder with impairment in social communication and with restricted repetitive behaviours About 1% to 60% of children with hypomelanotic skin disorders have autism.Case summary:A 3 year old female child had low weight and Neonatal ICU stay at birth, delay in fine motor, social cognition and language, and hyperactivity, along with inappropriate behaviors, poor eye contact and solitary play. Ophthalmology consultation showed foveal hypoplasia and was diagnosed to have oculocutaneous albinism. Paediatricians referred the child to Psychiatry for hyperactivity symptoms. On Psychiatric evaluation, objective assessments showed evidence of autism.Discussion:Autism spectrum disorders are one of the most common neurodevelopmental disorders associated with various comorbidities which could make the core diagnosis of autism challenging. Even though albinism with poor eye sight and intellectual disability secondary to neonatal insult can itself cause all the above clinical features, the child scored high in Modified Checklist for Autism in Toddlers (M-CHAT) and Childhood Autism Rating Scale (CARS) and diagnosed as Severe Autism, which could have been easily missed if not evaluated for.Conclusion:Autism is difficult to diagnose without adequate expertise and it is necessary to get Psychiatry liaison in any child with suspected atypical behaviour for early diagnosis and treatment.