ABSTRACT
Ubiquitin-specific protease 8 (USP8) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal growth factor receptor for escape from degradation. Somatic variants at a hotspot in USP8 are a cause of Cushing's disease, and a de novo germline USP8 variant at this hotspot has been described only once previously, in a girl with Cushing's disease and developmental delay. In this study, we investigated an exome-negative patient with severe developmental delay, dysmorphic features, and multiorgan dysfunction by long-read sequencing, and identified a 22-kb de novo germline deletion within USP8 (chr15:50469966-50491995 [GRCh38]). The deletion involved the variant hotspot, one rhodanese domain, and two SH3 binding motifs, and was presumed to be generated through nonallelic homologous recombination through Alu elements. Thus, the patient may have perturbation of the endosomal sorting system and mitochondrial autophagy through the USP8 defect. This is the second reported case of a germline variant in USP8.
Subject(s)
Pituitary ACTH Hypersecretion , Female , Humans , Endopeptidases/genetics , Endosomal Sorting Complexes Required for Transport/genetics , Endosomal Sorting Complexes Required for Transport/metabolism , Germ Cells/metabolism , Germ-Line Mutation/genetics , Pituitary ACTH Hypersecretion/metabolism , Ubiquitin Thiolesterase/genetics , Ubiquitin Thiolesterase/metabolismSubject(s)
Abnormalities, Multiple , Acanthosis Nigricans/pathology , Craniosynostoses/pathology , Ear/abnormalities , Scalp Dermatoses/pathology , Skin Abnormalities/pathology , Trachea/pathology , Child, Preschool , Ear/pathology , Female , Humans , Infant , Infant, Newborn , Male , Prognosis , Trachea/abnormalitiesABSTRACT
This study aimed to investigate the penetration rate of child protection teams (CPTs) in medical institutions and associations between CPT functions and hospital services. We collected data in October of 2015 from 377 hospitals in Japan offering pediatric organ transplantation. The questionnaire included questions regarding the existence of a CPT, the number of child maltreatment cases discussed and reported per year, CPT functions including 21 items about staffing, manuals, meeting, prevention, education, and collaboration, and the services provided by the hospital. Of the 377 institutions, 122 (32.4%) answered the survey. There were significant associations between CPT functions and the number of pediatric beds (râ¯=â¯.27), number of pediatricians (râ¯=â¯.27), number of outpatients (râ¯=â¯.39), number of emergency outpatients (râ¯=â¯.28), and emergency medical care (pâ¯=â¯.009). In a multiple regression analysis, CPT functions were significantly associated with the number of CPT members, pediatric outpatient numbers, and pediatric emergency outpatient numbers. Japan has no CPT guidelines that outline what CPTs should offer in terms of structure, staffing, functions, and systems. Hospitals with many pediatric and emergency outpatients are expected to play major roles in providing services such as specialty care, intensive care, and education. They are also expected to play a role in detecting and managing child maltreatment, and have, by their own initiative, improved their capacities to achieve these goals.
Subject(s)
Child Abuse/prevention & control , Child Protective Services/statistics & numerical data , Patient Care Team/organization & administration , Child , Child Abuse/statistics & numerical data , Child Welfare/statistics & numerical data , Cross-Sectional Studies , Hospitals/statistics & numerical data , Humans , Japan , Medical Staff, Hospital/statistics & numerical data , Outpatients/statistics & numerical data , Patient Care Team/statistics & numerical data , Professional Role , Surveys and QuestionnairesABSTRACT
BACKGROUND: In 2014, we created a training program for personnel in medical institutions in Japan to combat child maltreatment. The aim of the present study was to document the effectiveness of this program. METHODS: Participants completed a questionnaire before and after the training lecture. The questionnaire designed for the training program included demographic questions such years of practice and area of specialty (i.e. physician, nurse, social worker, public health nurse, technician, and others), as well as experience of suspected child maltreatment cases and training in dealing with such cases. The questionnaire included 15 statements designed to ascertain practical knowledge and attitudes relevant to addressing child maltreatment. Baseline score measured before the lecture was compared with that obtained after the lecture. RESULTS: A total of 760 participants completed the survey, including 227 physicians, 223 nurses, 38 technologists, 27 social workers, 11 public health nurses, and 174 with other occupations, and 60 participants who left their occupation as blank. There was a significant difference between the baseline score of participants with versus without experience in suspected child maltreatment or training to deal with child maltreatment (F = 16.3; P < 0.001). After the lecture, the average score rose above the baseline (11.18 vs 10.57). The rate of correct answers for nine questionnaire items increased significantly. CONCLUSIONS: Professionals from a range of fields need clinical skills and judgement to decide if a child's injuries are due to maltreatment. The combination of increased clinical experience along with a high-quality didactic lecture, appears to be the most effective method of raising awareness and enhancing skills.
Subject(s)
Child Abuse/diagnosis , Child Abuse/prevention & control , Education, Medical, Continuing/methods , Education, Nursing, Continuing/methods , Health Personnel/education , Attitude of Health Personnel , Child , Clinical Competence , Humans , Japan , Program EvaluationABSTRACT
BACKGROUND: Food selectivity is commonly reported in children with autism spectrum disorder (ASD). The aim of this study was to investigate eating habit history in children with ASD. METHODS: We analyzed 3 day food records completed by the parents and assessed how many unique foods each child consumed. The parents were also interviewed about their child's diet of complementary (i.e. transition) foods and estimated food repertoire at the ages of 3, 6, 12 and 18 years. RESULTS: A total of 28 participants were enrolled in this study. Some participants had ongoing changes in food repertoire from the age of 3 years onward. In two cases, although the number of foods consumed at age 3 years was approximately 50, this decreased markedly, becoming severely limited, by age 5 years. One of the reasons for diminished repertoire was infection, such as acute gastroenteritis and upper respiratory tract infection. In contrast, five patients had a severely limited food repertoire at age 3 years, which later increased to 15 or more. Four patients had good opportunity at school to increase their food repertoire. CONCLUSIONS: Diet history varied and changed in response to new opportunities, education and/or the environment. In some cases the number of foods consumed decreased gradually due to anxiety and stress, resulting in a severely limited food repertoire. Some patients had good opportunities to increase their repertoire at school. If an effective program in the early years achieves progress, the eating habits of children with ASD might be changed.
Subject(s)
Autism Spectrum Disorder/psychology , Diet/psychology , Food Preferences/psychology , Adolescent , Adult , Age Factors , Child , Child, Preschool , Diet Surveys , Female , Follow-Up Studies , Humans , Japan , Male , Retrospective Studies , Young AdultABSTRACT
We report a case of right chylothorax associated with physical abuse in a 10-month-old boy who presented with respiratory decompensation. Chylothorax was improved by thoracic drainage and nutrition management, such as fasting followed by medium-chain triglyceride milk. Chest computed tomography on admission showed bilateral old rib fractures. Accordingly, physical abuse was suspected. Chylothorax of unknown cause in infancy, especially in those with coexisting rib fractures, must be scrutinized for child abuse.
Subject(s)
Child Abuse , Chylothorax/etiology , Thoracic Injuries/complications , Chest Tubes , Chylothorax/diagnosis , Chylothorax/surgery , Diagnosis, Differential , Drainage/instrumentation , Humans , Infant , Male , Radiography, Thoracic , Thoracic Injuries/diagnosis , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: We examined differences in characteristics between abusive head trauma (AHT) and physical abuse (PA). METHODS: We examined 45 AHT patients and 119 PA patients during the period 1 April 2000-31 March 2014, at Kanagawa Children's Medical Center (Kanagawa, Japan). We compared patient age, young maternal or parental age, being the first child, child factors (chronic illness, developmental disabilities and preterm birth), parental factors (substance abuse/alcohol abuse and depression or other mental illness), environmental factors (single-parent home, non-biologically related man living in the home and family or intimate partner violence). Logistic regression was used to examine predictors of differences between AHT and PA for children <1 year of age. RESULTS: There were differences in characteristics between AHT and PA in those <1 year old in child factors (OR, 3.47; 95%CI: 1.01-11.9) and environmental factors (OR, 14.2; 95%CI: 1.45-139). CONCLUSIONS: The risk factors for AHT differ from those of PA. We speculate that AHT is not merely physical abuse of young infants; the characteristics of AHT differ significantly from those of PA. These observations are important for understanding and thereby preventing child abuse.
Subject(s)
Head Injuries, Closed/epidemiology , Physical Abuse/statistics & numerical data , Adolescent , Child , Child, Preschool , Diagnostic Imaging , Female , Follow-Up Studies , Head Injuries, Closed/diagnosis , Head Injuries, Closed/etiology , Humans , Incidence , Infant , Infant, Newborn , Japan/epidemiology , Male , Odds Ratio , Retrospective Studies , Risk Factors , Survival Rate/trends , Trauma Severity IndicesABSTRACT
BACKGROUND: Möbius syndrome is a congenital disorder with facial and abducens palsy. Although a few case series studies have examined comorbid conditions in Möbius syndrome, follow-up and outcome data are sparse. OBJECTIVES: To examine the clinical characteristics and outcomes of Möbius syndrome. METHODS: Clinical data were reviewed for 10 patients. Neonatal history, neurological examination, comorbid anomalies, medical home care, outcomes, and neuroimaging were summarized. RESULTS: The patients' mean age was 7.3 ± 6.2 years. On neurological examination, absent blink reflex, jaw ankylosis, absent gag reflex, and tongue atrophy were frequently observed. Poland anomaly and clubfoot were present in three and six patients, respectively. Specific therapies required for patients included medical home care (six patients), suction apparatus (six), tube feeding (five), gastrostomy (two), tracheostomy (three), oxygen therapy (three), and home ventilator (two). Punctate calcification in the brainstem was observed in four patients. Pontine and medulla hypoplasia were detected on the basis of anteroposterior diameter in four and seven patients, respectively. Two patients had congenital hydrocephalus with aqueductal stenosis. Global developmental delay occurred in five patients. Three patients died. CONCLUSION: The rate of both the use of home medical devices and death was high in our patients. Möbius syndrome is extremely diverse, not only in clinical manifestation, but also outcome. Early multidisciplinary intervention is important to ensure an optimal outcome. Aqueductal stenosis is an occasional comorbid anomaly resulting from midbrain abnormality.
Subject(s)
Mobius Syndrome/pathology , Mobius Syndrome/physiopathology , Mobius Syndrome/therapy , Adolescent , Adult , Child , Child, Preschool , Fatal Outcome , Female , Follow-Up Studies , Hospitals, Pediatric , Humans , Infant , Male , Young AdultABSTRACT
Syndromic craniosynostosis is associated with a high rate of respiratory difficulty, due mainly to midfacial hypoplasia. Nasopharyngeal airway establishment has been reported as the first-line approach to airway obstruction and may obviate the need for a highly invasive tracheotomy. No previous studies have compared airway obstruction status in syndromic craniosynostosis between cases requiring and not requiring airway managements. We focus on nasopharyngeal airway use and airway status outcomes to assess respiratory difficulty in patients with syndromic craniosynostosis. A retrospective data analysis of 51 cases with syndromic craniosynostosis was carried out. We divided 30 of the 51 cases with lateral pharyngeal x-rays taken before operations affecting airway diameters into 2 groups, one with neither nasopharyngeal airway insertion nor tracheotomy and the other with one or both of these interventions, and the mean diameters for 8 indices related to the pharyngeal space were compared. Cases with respiratory difficulty due to nasopharyngeal stenosis and requiring airway managements comprised a significantly higher proportion of those with Pfeiffer syndrome than patients with Crouzon or Apert syndrome. Comparative examination of lateral x-ray cephalometry between cases with neither nasopharyngeal airway insertion nor tracheotomy and cases with one or both revealed oropharyngeal diameters tended to be smaller in those with interventions. Cases requiring nasopharyngeal airway insertion were able to continue nasopharyngeal airway use for more than 1 year and a considerable number avoided tracheotomy. It may be worth considering an oropharyngeal-bypass nasopharyngeal airway before performing a tracheotomy.
Subject(s)
Airway Management/methods , Airway Obstruction/therapy , Craniosynostoses/complications , Acrocephalosyndactylia/complications , Airway Management/instrumentation , Airway Obstruction/etiology , Cephalometry/methods , Child, Preschool , Constriction, Pathologic/complications , Continuous Positive Airway Pressure/methods , Craniofacial Dysostosis/complications , Female , Follow-Up Studies , Humans , Infant , Intubation/instrumentation , Laryngomalacia/etiology , Male , Nasopharyngeal Diseases/complications , Nasopharynx/diagnostic imaging , Oropharynx/diagnostic imaging , Oxygen Inhalation Therapy/methods , Pharynx/diagnostic imaging , Radiography , Retrospective Studies , Tracheal Stenosis/etiology , Tracheotomy/methods , Treatment OutcomeABSTRACT
AIM: To evaluate the apparent diffusion coefficient (ADC) values for predicting the long-term neurodevelopmental outcomes of patients with abusive head trauma (AHT). METHODS: Apparent diffusion coefficient maps were retrospectively reviewed for 14 patients who presented with AHT at a mean age of 6.7 months (range 1-18 months), and the clinical outcomes of the survivors were based on the Glasgow Outcome Score. RESULTS: One of 14 infants died, and two were severely disabled. One had mild impairment and four had moderate disability. In the 4 days after admission, the ADC values in all brain regions were strongly associated with a poor neurodevelopmental outcome (p < 0.05): basal ganglia, thalamus, brain stem, corpus callosum, frontal white matter, central white matter, parietal white matter, frontal grey matter, parietal grey matter, cerebellar vermis, cerebellar cortex and mean total brain. CONCLUSION: Apparent diffusion coefficient values during the acute phase of AHT were significantly associated with poor long-term neurodevelopmental outcomes.
Subject(s)
Central Nervous System Diseases/diagnosis , Child Abuse , Craniocerebral Trauma/diagnosis , Diffusion Magnetic Resonance Imaging/methods , Shaken Baby Syndrome/diagnosis , Central Nervous System Diseases/etiology , Cohort Studies , Craniocerebral Trauma/etiology , Developmental Disabilities/diagnosis , Developmental Disabilities/etiology , Female , Glasgow Coma Scale , Humans , Infant , Infant, Newborn , Male , Predictive Value of Tests , Prognosis , Retrospective Studies , Risk Assessment , Shaken Baby Syndrome/mortality , Survival RateABSTRACT
A 5-year-old boy with autism developed dry eye and xerophthalmia. Serum vitamin A was undetectable. Dietary history revealed a markedly altered intake consisting of only fried potatoes and rice balls for 2 years. Fried potatoes contain no vitamin A. Autism is a multifaceted developmental disorder infrequently accompanied by abnormal eating practices. To the authors' knowledge, most children with autism who develop dietary vitamin A deficiency have consumed an excess of fried potatoes. Attention to possible vitamin A deficiency is essential when fried potatoes are consumed exclusively.
Subject(s)
Autistic Disorder/complications , Diet/adverse effects , Feeding Behavior , Feeding and Eating Disorders of Childhood/etiology , Solanum tuberosum , Vitamin A Deficiency/etiology , Vitamin A/blood , Child, Preschool , Cooking/methods , Feeding and Eating Disorders of Childhood/blood , Humans , Male , Oryza , Vitamin A Deficiency/blood , Xerophthalmia/etiologyABSTRACT
AIM: The aim of this study was to evaluate the value of early radiological investigations in predicting the long-term neurodevelopmental outcome of patients with inflicted traumatic brain injury (ITBI). METHODS: In 28 patients with ITBI, radiological investigations were performed during the acute phase of injury (0-3 days) and during the early post-injury phase (4 days to 1 month). The clinical outcome in survivors (n = 24) was based on the Glasgow Outcome Score. RESULTS: Four of 28 infants died and five were severely disabled. Six infants had moderate disability. Detection of changes in the basal ganglia (p < 0.000005) or brainstem (p < 0.01), diffuse oedema (p < 0.005), transtentorial herniation (p < 0.01), subarachnoid haemorrhage (p < 0.05) or parenchymal injury (p < 0.05) by neuroimaging during the first 3 days, and detection of changes in the basal ganglia (p < 0.0005) or brainstem (p < 0.05) or parenchymal injury (p < 0.01) during 1 month were significantly associated with poor long-term outcome. CONCLUSION: Radiological findings during the first month were significantly associated with the long-term outcome. Especially, basal ganglia lesions were associated with a poor outcome.
Subject(s)
Brain Injuries/diagnostic imaging , Brain Injuries/etiology , Child Abuse/diagnosis , Developmental Disabilities/etiology , Female , Humans , Infant , Infant, Newborn , Male , Predictive Value of Tests , Prognosis , RadiographyABSTRACT
We report acute encephalopathy in two cases with severe congenital hydrocephalus. Case 1 was a 23-month-old girl, born at of 36weeks gestation and delivered by cesarean section due to congenital hydrocephalus. Magnetic resonance imaging (MRI) showed prominent ventricular dilation associated with hydrocephalus, Dandy-Walker variant and cortical malformation. The blood test for toxoplasmosis, syphilis, varicella-zoster, rubella, cytomegalovirus, and herpes simplex virus (TORCH) complex and various metabolic tests of blood and urine specimens yielded unremarkable results. She was admitted to our hospital for respiratory failure with fever and her clinical course deteriorated, progressing to hemiconvulsion hemiplegia epilepsy syndrome. Case 2 was a 17-month-old boy, born by spontaneous vertex delivery at 39weeks. Severe, asymmetrical ventricular dilation associated with hydrocephalus, cerebellar and brainstem hypoplasia, and punctuate calcifications of the thalamus, third and fourth ventricles, around the aqueduct, were observed on computed tomography (CT). The blood test for TORCH complex and various metabolic tests of blood and urine specimens yielded unremarkable results. He was admitted to our hospital for status epilepticus with fever and his clinical course progressed to hemorrhagic shock and encephalopathy syndrome. In patients with brain disorders, diagnosis and treatment are likely to be delayed and prognosis may thereby be worsened. When status epileptics or prolonged coma manifests even in patients with severe brain disorders, we must consider encephalopathy in the differential diagnosis.
Subject(s)
Brain Diseases/etiology , Hydrocephalus/complications , Brain Diseases/pathology , Female , Humans , Hydrocephalus/pathology , Infant , Magnetic Resonance Imaging , Male , Risk FactorsABSTRACT
OBJECTIVES: Epileptic spasms (ES) in West syndrome (WS) are classified as being of the generalized seizure type. However, evidence of a focal neocortical origin has been proposed based mainly on surgical WS series. We report herein two infants with WS, whose ES subsequently evolved into focal ES of the right lower extremity. METHODS: Medical records, electroencephalographic and neuroimaging findings were retrospectively analyzed. RESULTS: A 2 year-old Japanese girl developed ES at 3 months of age. Focal ES of the right leg manifested one month after successful ACTH therapy performed at 6 months of age. Brief jerking of the right leg, every few seconds, occurred immediately after awakening. A 7 month-old girl with symptomatic WS had developed focal seizures with postural signs at 2 months of age. The seizures gradually diminished and had been replaced by ES by 3 months of age. ES gradually evolved into focal ES of the right leg. A video-polygraphic study demonstrated the ES with marked predominance in the right leg corresponding to a left sided predominant paroxysmal biphasic slow wave complex. Brain MRI revealed no abnormal findings although interictal EEG demonstrated left centro-parieto-temporal localized spike foci. CONCLUSIONS: The focal ES of one lower limb, following treatment of ES in these two infants with WS, suggests the origin of the ES in the first case to be a neocortical focus involving the primary motor cortex representing the lower limb while that in the second case involves more widespread neocortical area with predominance in the same motor cortex as the first case.
Subject(s)
Epilepsies, Partial/etiology , Spasms, Infantile/etiology , Spasms, Infantile/physiopathology , Child, Preschool , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging/methods , Spasms, Infantile/pathologyABSTRACT
We report two female cases of acute disseminated encephalomyelitis with onset of 19 and 15 months, respectively. MRI demonstrated the T2-high lesions in the cerebral and cerebellar white matter, and the basal ganglia in addition to the spinal cord in the latter case. Treatment with high dose of intravenous methylprednisolone was effective to ameliorate the symptoms in both cases, although spasticity persists in the leg of the latter case. We review ten Japanese cases of acute disseminated encephalomyelitis with the onset before the age of 24 months, including our cases and eight reported cases in the literatures. And we found no significant interrelationships between age of onset and clinical features.