What parents think and feel about deep brain stimulation in paediatric secondary dystonia including cerebral palsy: A qualitative study of parental decision-making

Background

Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored.

Tecto-Cerebellar Dysraphia Manifesting as Occipital Meningocoele Associated with Congenital Melanocytic Nevi and Pectus Excavatum

Background

Only few reported cases of tectocerebellar dysraphia with occipital encephalocele have been reported in the literature.

Case Presentation

Three month baby boy, the first child of healthy, consanguineous parents presented with a small swelling over the occipital region since birth. The child also used to have apneic spells without cyanosis and spontaneous recovery. CT scan showed absence of the cerebellar vermis, absence of tectum and the 4^th ventricle communicating with the occipital menigocoele sac and an occipital bone defect. The excision of the encephalocoele sac was performed, however the child continued to have apneic spells and did not do well.

Conclusion

In our child irregular respiration probably was the manifestation of the tecto-cerebellar dysraphia syndrome complex and associated shunt malfunction followed by seizures decompensated the physiology of the child leading to fatal outcome.     

Availing Services for Developmental Disabilities: Parental Experiences from a Referral Center in Developing Country

Objectives

To identify the problems faced by parents of children with developmental disabilities in availing rehabilitative services and to find their satisfaction level.

Methods

This study was carried out at a Child Development Clinic (CDC) located in Northern India. Children with developmental disabilities, who were availing services at CDC for at least last 3 mo and had at least 3 follow-up visits, were enrolled. A questionnaire pertaining to the socio-demographic profile, problems faced in availing services and satisfaction level was filled by the parents of the enrolled children.

Results

During the study period, 161 parents filled the questionnaire. 77.6% had some problems in getting the services, the major being difficulty in commuting (50%) and financial constraint (21.7%). More than 80% parents use public transport to reach CDC with 19% travelling more than 50 Km. 29.8% had difficulty in bringing their child to the clinic, either due to severe behavioral problems or physical disability. However, majority of the families were well satisfied with the services as 95% of them graded their satisfaction level at 3 or more on the scale of 0–5.

Conclusions

Parents of children with developmental disabilities face many problems in getting rehabilitative services. They travel long distances, face hardships in carrying their child, and lose their day’s earnings, apart from spending time and money for their child’s therapy. However, most of the parents are well satisfied with the services.

     

Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study北大核心CSCD

男性患儿,16月龄,因发现头面部红斑15个月,外阴红斑10个月,加重5 d就诊。患儿新生儿期即出现口周、眼周红斑,婴儿期出现颈部、腋下、外阴三角区等腔口和皱褶部位的红斑、丘疹,可见脱屑和糜烂。血气分析提示代谢性酸中毒,血遗传代谢病氨基酸和酰基肉碱谱分析、尿液有机酸分析结果均提示多种羧化酶缺乏症,基因检测结果提示HLCS基因存在c.1522C>T(p.R508W)纯合突变。最终该患儿诊断为全羧化酶合成酶缺乏症,口服生物素治疗取得良好的临床疗效。该文总结了1例全羧化酶合成酶缺乏症患儿的临床资料,对其病因、诊断、治疗进行归纳总结,为临床医生诊断该类罕见疾病提供思路。     

Mort périnatale et d’un jeune enfant. Histoire des rites et des pratiques funéraires en Europe issus de l’expression affective et sociale du deuil. Première partie : de la Préhistoire aux Lumières

Aim

Interdisciplinary research of emotional constants and the need for social support in grieving parents throughout the ages.

Introduction of new food textures during complementary feeding: Observations in France

Introduction

Complementary feeding plays a crucial role in the development of infants and toddlers and studies suggest benefits specific to the introduction of food textures.

Death of a child: Parental perception of grief intensity �C End-of-life and bereavement care

OBJECTIVE:

The death of a child is a tragedy resulting in family trauma and disorganization. The present study sought to evaluate the intensity of grief experienced by parents who have lost a child in the perinatal period (stillbirth, premature baby, term baby less than one month) and parents who have lost a child after the perinatal period (one month to 18 years).

METHOD:

To compare the intensities of the bereavement reactions among grieving parents and to follow the course of such phenomena, a detailed bereavement questionnaire (the French version of the Texas Revised Inventory of Grief [TRIG-F]) was used. The TRIG-F is a three-part questionnaire that quantifies the intensity of grief near the time of death and in the present, and the perceived capacity of coping.

RESULTS:

Seventy-one bereaved parents, representing 43 families, completed the questionnaire. Parents who lost a child after the perinatal period showed grief at a higher intensity, measured by the TRIG-F, than parents who had lost a child in the perinatal period (83±22 versus 69±20 [mean±SD]; P=0.004). Mothers expressed a greater intensity of grief than fathers. No significant difference between mothers of the perinatal group and mothers of the postperinatal group was shown. Sudden death and death ocurring at home were associated with a higher grief intensity.

CONCLUSION:

Bereavement after the loss of a newborn or an older child is intense and prolonged. These findings support the importance of bereavement care for grieving parents and suggest that these parents appreciate help from health care professionals.     

Parents' advice to healthcare professionals working with children who have spinal muscular atrophy

Aim

To explore parents' advice to healthcare professionals working with children with spinal muscular atrophy (SMA).

Adaptation of pain scales for parent observation: are pain scales and symptoms useful in detecting pain of young children with the suspicion of acute otitis media?

Background

The assessment of ear pain is challenging in young, mostly preverbal children. Our aim was to investigate whether pain scales are useful tools for parents to detect pain in their young children with the suspicion of acute otitis media (AOM), and to assess associations between 16 symptoms and the severity of pain.

Methods

This cross-sectional study included 426 children (6–35?months) with symptoms suggestive of AOM. We surveyed symptoms and pain via parental interview. As part of the interview, parents assessed their child’s pain by using two pain scales: The Faces Pain Scale-Revised (FPS-R) and the Face, Legs, Activity, Cry, Consolability (FLACC) Scale. The outcome of interest was moderate/severe pain. We used the χ² test or Fisher’s test as applicable to compare the severity of pain between three parental pain assessment methods (the parental interview, the FPS-R and the FLACC Scale). We also used multivariable logistic regression models to study the association between the severity of pain and AOM and to study the association between symptoms and the severity of pain.

Results

In children with AOM (n?=?201), pain was assessed by parents as moderate/severe in 65% via interview; 90% with the FPS-R; and 91% with the FLACC Scale (P?<?0.001). In children without AOM (n?=?225), the percentages were 56, 83 and 88%, respectively (P?<?0.001). Between children with and without AOM, the occurrence of moderate/severe pain did not differ with any of the pain evaluation methods. Of symptoms, ear pain reported by child and restless sleep were significantly associated with moderate/severe pain, regardless of the pain evaluation method.

Conclusions

It seems that nearly all the children with respiratory tract infection, either with or without AOM, might suffer from moderate/severe pain. Without pain scales, parents may underestimate their child’s pain. Of symptoms, ear pain reported by child and restless sleep might indicate pain in children with respiratory tract infection. We suggest that the adaptation of pain scales for parent observation is a possibility in children with respiratory tract infection which, however, requires further studies.

Trial registration

www.clinicaltrials.gov, identifier NCT00299455. Date of registration: March 3, 2006.

     

Screening for Behavioral Risk Factors Is Not Enough to Improve Preventive Services Delivery

Objective

Unhealthy behaviors are a major cause of chronic disease. Preappointment screening has been suggested as one way to improve preventive care delivery related to these behaviors by specifying risks to be addressed. We aimed to determine whether screening for health-related behaviors before the clinical encounter will lead to higher counseling rate and service delivery by clinicians.

Faktoren der Früherkennung visueller Entwicklungsstörungen bei 3-jährigen Kindergartenkindern

Purpose and Background

In the ‘Tuebingen Kindergarten Study’, an orthoptic screening program for amblyopia in 3-year-olds was evaluated. In the retrospective analysis presented here, the association between a child’s history—especially participation in regular preventive care examinations (U4 to U7)—and time of detection of target diseases was investigated.

Methods and Subjects

Parents of three children groups were interviewed by telephone. Group 1 consisted of 21 children already treated for amblyopia before orthoptic screening, group 2 of 26 children with target conditions newly detected by orthoptic screening, and group 3 of 32 children with newly detected moderate ametropia. The groups were tested for differences in history and utilisation/results of regular screenings.

Results

77–90% of all children had positive family histories. Participation in regular screenings ranged from 82% to 92%. There were no significant differences between the groups. Nearly 90% of parents from groups 2 and 3 had not heard of amblyopia before orthoptic screening. One child was referred after preventive care examinations.

Conclusions

Regular preventive care examinations contributed little to the detection of amblyopia. The strong authority of the paediatrician should be exerted for early education of parents.     

Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy

Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation may occur from 8 weeks of age. The neuropathological findings in ISOD are similar to those seen in severe perinatal asphyxia. We describe two siblings with ISOD born to healthy non-consanguineous parents. The first child presented within 48 h of birth with poor feeding and seizures. He died from septicaemia on day 20 of life. The clinical presentation, neuroradiology and autopsy suggested a diagnosis of severe hypoxic ischaemic encephalopathy with a low recurrence risk. The second child presented with seizures within an hour of birth. She lived for 16 months during which time she failed to make developmental progress and continued to experience intractable seizures. Her neuroradiology was similar to her brothers. A diagnosis of ISOD was suggested from high urinary S-sulphocysteine in the second child and confirmed by the absence of sulphite oxidase activity in skin fibroblast culture. The diagnosis has enabled the couple to access prenatal testing in a subsequent pregnancy. Conclusion:Isolated sulphite oxidase deficiency is an autosomal recessive condition which may mimic ischaemic encephalophathy. The disorder should be considered in all cases of intrauterine seizures, intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalophathy, especially when no obvious insult can be determined.E. Hobson and S. Thomas contributed equally to this paper     

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result

Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin. It usually presents with ataxia and seizures, though atypical presentations have also been described. We report a 15-month-old boy with profound biotinidase deficiency who presented with laryngeal stridor and subsequently developed severe ataxia and lactic acidosis. Subsequently, it was discovered that the patients newborn screening test for biotinidase activity had been inconclusive, but confirmatory testing had not been done. Brain magnetic resonance imaging showed multiple white matter non-enhancing T2 hyperintensities, which largely resolved following 6 months of biotin therapy; however, there was residual deafness and mental retardation. Conclusion:An argument is made for universal newborn screening in biotinidase deficiency and improved mechanisms for follow-up of positive screens, because delay in diagnosis results in irreversible morbidity, newborn screening is cost effective, and early therapy prevents the neurologic sequelae.     

Disclosing Study Information to Children and Adolescents: Is What They Want,What Their Parents Think They Want?

Objective

Despite the importance of child assent, there is little consensus on what information should be disclosed and what information is most important to children for decision-making. This study was designed to compare children's/adolescents' priorities for research information with the information parents believe is most important to their children.

Association of Picky Eating With Weight Status and Dietary Quality Among Low-Income Preschoolers

Background

Picky eating is common in children. Few studies have examined predictors of picky eating, and the association of picky eating with weight status and dietary quality is inconsistent in the literature. We aimed to identify predictors of picky eating and to test the association of picky eating with child body mass index z-score (BMIz), dietary quality, and micronutrient intake.

Mesothelial cell proliferation and localized pleural pseudotumour associated with Mycoplasma pneumoniae infection

A 9-year-old boy had serological evidence of Mycoplasma pneumoniae infection. Mycoplasma organisms were cultured from throat swabs. A chest X-ray and computed tomography revealed a localized pleural tumour with pleural fluid containing mesothelial cells. It is suggested that mesothelial cell hyperplasia developed as a reactive change following M. pneumoniae infection.     

Stratégies de coping et sentiment de compétence parentale des parents d’enfants atteints de troubles autistiques

Introduction

Numerous studies have been done about the impact of the diagnosis of autism spectrum disorder on the parents’ quality of life and the family as a whole. Confronting child suffering, day-to-day disability management and difficulties in integrating the child have an impact on the physical and mental well-being of parents. Parenting with a child suffering from a disability requires significant cognitive, emotional and behavioral adjustments by the parents. New knowledge in this field would make possible to adjust as much as possible the therapeutic management, in particular in the accompaniment of parents experience and parenting role. The main objective of this study is to identify links between coping strategies of parents to deal with the stressful events induced by the child's disability and their sense of parental competence. The second objective is to observe whether the integration of parents into the therapeutic management of the child has an impact on well-being.

Reaktivierung nach einer Herpes-simplex-Enzephalitis

Background

In case of relapse after Herpes simplex encephalitis (HSE) a clear distinction between recurrent virus infection and autoimmune disease is frequently not possible and both pathophysiological mechanisms can occur simultaneously.

Case

We report on a 4 year old boy who was admitted in stupor 10 days after HSE.

Treatment and follow-up

Treatment with aciclovir, immunoglobulins, phenobarbital und tiapridex had no effect. The child developed severe neurological deficits. After 6 months of inpatient rehabilitation his motor status returned to normal while substantial impairment of speech and attention remained.

Conclusions

Early relapse after HSE occurs within 2–4 weeks after the initial disease. Clinical presentation includes various neurological symptoms in combination with fever and impairment of consciousness. We recommend CSF testing and MRI after completion of the initial antiviral therapy.