Mother-infant feeding interactions in mothers with and without eating disorder history: Results of a structured observational study.

BACKGROUND: A growing body of evidence suggests that children of mothers with eating disorders (EDs) have a greater risk of early feeding problems. Recognizing and reacting adequately to the infant's signals during feeding is crucial for the child's development of internal and external regulatory mechanisms of food intake. Parental EDs might affect this ability. Therefore, we investigated the quality of mother-infant interactions during feeding using video recording and a structured coding system. METHODS: The data of this pilot study was collected in a prospective cohort study investigating the influence of maternal EDs on child outcomes. Twenty women with ED history and 31 control women were videotaped while feeding their infant during a main meal at ten months postpartum. The mother-infant interactions were evaluated by two raters using the Chatoor Feeding Scale. We assessed birth outcomes, the mother's ED and depression status, breastfeeding practices, infant feeding problems and infant temperament by maternal self-report. RESULTS: Mothers with and without ED history scored very similar on the Feeding Scale, however mothers from the control group experienced more struggle for control with their infants during feeding (p = 0.046) and made more negative comments about the infant's food intake (p = 0.010). Mothers with ED history were more concerned about infant feeding at three months postpartum and reported significantly more problems with solid foods in their children. Birth outcomes were comparable between groups, except for lower weight-for-length birth percentiles in children of women with ED history. CONCLUSION: Whilst examined mothers with ED history are more concerned about feeding their children, ED psychopathology does not affect the quality of mother-infant interaction during feeding at the transition to autonomous eating at ten months of age.

Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy.

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter as T2 hyperintense areas but cannot quantify the gradual microstructural process of demyelination more accurately. Our study aimed to investigate the value of routine MR diffusion tensor imaging in assessing disease progression. METHODS: MR diffusion parameters (apparent diffusion coefficient [ADC] and fractional anisotropy [FA]) were in the frontal white matter, central region (CR), and posterior limb of the internal capsule in 111 MR datasets from a natural history study of 83 patients (age: 0.5-39.9 years; 35 late-infantile, 45 juvenile, 3 adult, with clinical diffusion sequences of different scanner manufacturers) as well as 120 controls. Results were correlated with clinical parameters reflecting motor and cognitive function. RESULTS: ADC values increase and FA values decrease depending on disease stage/severity. They show region-specific correlations with clinical parameters of motor and cognitive symptoms, respectively. Higher ADC levels in CR at diagnosis predicted a disease course with more rapid motor deterioration in juvenile MLD patients. In highly organized tissues such as the corticospinal tract, in particular, diffusion MR parameters were highly sensitive to MLD-associated changes and did not correlate with the visual quantification of T2 hyperintensities. CONCLUSION: Our results show that diffusion MRI can deliver valuable, robust, clinically meaningful, and easily obtainable/accessible/available parameters in the assessment of prognosis and progression of MLD. Therefore, it provides additional quantifiable information to established methods such as T2 hyperintensity.

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease-causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene exhibit reduced ARSA activity. In the context of these genotypes, low ARSA activity has been suggested to lead to an atypical form of MLD or other neurological abnormalities, but data are limited. The aim of our study was to analyse the impact of low ARSA activity in two subjects who are heterozygous for the ARSA pseudodeficiency allele and a disease-causing variant. Biochemical testing included ARSA activity measurements and urinary sulfatide analysis. Biochemical data of a large cohort of MLD patients, heterozygotes, pseudodeficient individuals and healthy controls were analysed. MRI was performed at 3T using T1- and T2-weighted sequences and MR spectroscopy. We present two long-term follow-ups who are heterozygous for the ARSA pseudodeficiency allele and a disease-causing variant in the ARSA gene in cis. The two related index cases exhibit markedly reduced ARSA activity compared to controls and heterozygous carriers. The neurological evaluation and MRI do not reveal any abnormalities. Our data underline that extremely low enzyme activity due to a pseudodeficiency allele and a disease-causing variant in the ARSA gene even in cis does not lead to clinical symptoms or pre-symptomatic MRI changes suspicious for MLD. The review of literature corroborates that any association of low ARSA activity with disease features remains questionable. It seems important to combine the measurement of ARSA activity with elevated sulfatide as well as genetic testing, as done in current newborn screening approaches. Heterozygosity for metachromatic leukodystrophy and an arylsulfatase A pseudodeficiency allele does not cause neurological or neuropsychiatric features.

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.

AIM: The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. METHODS: Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly established and validated scoring system which addresses white matter changes and supratentorial versus infratentorial atrophy. RESULTS: Seven scans were from six NPC patients with early infantile onset (<2 years of age), six scans were from three patients with late infantile onset (2-6 years), six scans from four with juvenile onset (6-15 years), and 13 from six with adult onset (>15 years). While supratentorial atrophy was the leading sign in the infantile groups, the juvenile and adult forms were characterized by both, infra- and supratentorial atrophy. White matter changes were found in nearly every patient; they increased with the disease duration in the earlier forms and were prominent in the later forms already early in the disease course. CONCLUSION: This is the first systematic and comparative MRI analysis in the different onset groups of NPC using a scoring system. Early during disease course, MRI showed different patterns in infantile compared with juvenile and adult onset NPC patients, for example, only supratentorial atrophy in juvenile versus global atrophy in adult onset patients. MRI changes provide an additional, early biomarker for NPC.

Cerebellar Bottom-of-Fissure Dysplasia-a Novel Cerebellar Gray Matter Neuroimaging Pattern.

We report on seven patients with a novel neuroimaging finding that involves exclusively the cerebellar gray matter at the bottom of several fissures of both hemispheres but spares the vermis. The abnormal fissures were predominantly located in the lower and lateral parts of the cerebellar hemispheres. The affected cerebellar cortex was hypointense on T1-weighted and hyperintense on T2-weighted and fluid attenuation inversion recovery sequences. In some patients, the involved cerebellar gray matter was mildly thickened and the affected fissures slightly widened. In three of seven patients, the neuroimaging findings were unchanged on follow-up studies up to 6 years. The seven patients had various indications for the brain magnetic resonance imaging studies, and none of them had cerebellar dysfunction. Based on the similarity of the neuroimaging pattern with the cerebral "bottom-of-sulcus dysplasia," we coined the term "cerebellar bottom-of-fissure dysplasia" to refer to this novel neuroimaging finding. The neuroimaging characteristic as well as the unchanged findings on follow-up favors a stable "developmental" (malformative) nature. The lack of cerebellar dysfunction in the affected patients suggests that cerebellar bottom-of-fissure dysplasia represents most likely an incidental finding that does not require specific diagnostic investigation but allows a reassuring attitude.

Destructive subependymal cysts following ventriculitis-pathomechanisms and treatment.

Ventriculitis may complicate neurosurgical procedures, for example, due to shunt or external ventricular drainage infection. Clearance of the infection with subsequent intravenous antibiotic therapy and shunt reinsertion, if necessary, are the standard treatment procedures with a high rate of success. Here, we report on a protracted complication, the development of destructive subependymal cysts, illustrate its treatment and discuss the pathomechanisms. The 2-year-and-9-month-old girl was admitted 5 weeks after a shunt revision with symptoms of shunt infection. Ventriculitis caused by Streptococcus salivarius (S. salivarius) was diagnosed and intravenous antibiotic treatment was performed. A new shunt system was implanted after clearance of infection and the girl did not show clinical signs of infection thereafter. A routine follow-up magnetic resonance imaging (MRI) revealed progressive and space-occupying multifocal subependymal cysts with partial destruction of the corpus callosum including compression of the ventricular system. Endoscopic broad-based laser fenestration of all cysts resulted in sustained regression of cavity formation. The cognitive development of the girl assessed 2 years afterward was completely normal. We conclude that routine follow-up MRI investigations are recommended 6 months after successful treatment of ventriculitis to detect protracted postinflammatory destructive subependymal cyst formations. Endoscopic broad-based laser-assisted cyst fenestration can stop progression and lead to regression of postinfectious subependymal cysts.

Long-term cognitive and neurological outcome of preterm infants with postnatally acquired CMV infection through breast milk.

INTRODUCTION: Long-term follow-up data on preterm infants with breast milk-acquired postnatal cytomegalovirus (CMV) infection are sparse. AIM: To systematically evaluate the long-term cognitive outcome and prevalence of cerebral palsy (CP) in patients after postnatal CMV infection. PATIENTS AND METHODS: All surviving infants <1500 g born in our centre between 1 June 1995 and 1 June 2000, and with postnatal CMV infection acquired at up to 3 months of corrected age, were eligible for our study; this included neurological and neurocognitive assessment, using the Kaufman Assessment Battery for Children (K-ABC) at the age of >4 years. A blinded and controlled matched-pairs design was used with gestational age, gender and date of birth as matching criteria. RESULTS: Of 50 eligible children, 42 (84%) could be tested. There was no difference in the prevalence of cerebral palsy. Following CMV infection during their hospital stay, infants had significantly lower results in the simultaneous processing scale of the K-ABC (p=0.029) after correction for additional risk factors like socioeconomic status (SES). Results for the sequential and achievement scales were only slightly reduced (p>0.05). CONCLUSIONS: It seems possible that breast milk-acquired CMV infection has a detrimental influence on cognitive development of preterm infants.

Benign partial epilepsy in childhood: selective cognitive deficits are related to the location of focal spikes determined by combined EEG/MEG.

PURPOSE: Benign partial epilepsy (BPE) in childhood is characterized by the occurrence of interictal stereotyped focal spikes with variable localization in the EEG. Children with BPE often exhibit neuropsychological deficits. It is unclear whether a correlation exists between these deficits and the localization of spikes, several EEG studies giving inconsistent results. Magnetoencephalography (MEG) improves the accuracy of spike localization. Therefore by using combined MEG/EEG, we investigated the topographic relation between focal spikes and neuropsychological findings in children with BPE. METHODS: Twenty-seven children diagnosed consecutively with BPE were enrolled in the study. All were examined by combined MEG/EEG and magnetic resonance imaging (MRI). Location of spikes was determined by dipole source estimation. A standardized neuropsychological assessment was conducted, including Kaufman ABC battery, language tests, and motor performance series. All children with sufficient MEG data were included in the correlation analysis (N = 20). RESULTS: Focal spikes were located in the perisylvian region in 13 children, in the occipital region in seven, and in the frontal region in one. Five children had bilateral or multiple foci. Children with left perisylvian spikes did not differ from the others in global IQ, but performed significantly lower in language tests (p = 0.01). Children with occipital spikes performed significantly lower in simultaneous information processing (p = 0.01), especially in visual transformation tasks. CONCLUSIONS: Combined MEG/EEG investigation is a useful tool to examine interictal focal spikes. Our results show a correlation between the location of spikes and selective cognitive deficits in children with BPE. These findings indicate that focal interictal spikes may interfere with complex cognitive functions.