Infant muscle tone and childhood autistic traits: A longitudinal study in the general population.

In a longitudinal population-based study of 2,905 children, we investigated if infants' neuromotor development was associated with autistic traits in childhood. Overall motor development and muscle tone were examined by trained research assistants with an adapted version of Touwen's Neurodevelopmental Examination between ages 2 and 5 months. Tone was assessed in several positions and items were scored as normal, low, or high tone. Parents rated their children's autistic traits with the Social Responsiveness Scale (SRS) and the Pervasive Developmental Problems (PDP) subscale of the Child Behavior Checklist at 6 years. We defined clinical PDP if scores were >98th percentile of the norm population. Diagnosis of autism spectrum disorder (ASD) was clinically confirmed in 30 children. We observed a modest association between overall neuromotor development in infants and autistic traits. Low muscle tone in infancy predicted autistic traits measured by SRS (adjusted beta = 0.05, 95% CI for B: 0.00-0.02, P = 0.01), and PDP (adjusted beta = 0.08, 95% CI for B: 0.04-0.10, P < 0.001). Similar results emerged for the association of low muscle tone and clinical PDP (adjusted OR = 1.36, 95% CI: 1.08-1.72, P = 0.01) at age 6 years. Results remained unchanged if adjusted for child intelligence. There was no association between high muscle tone and SRS or PDP. Exclusion of children with ASD diagnosis did not change the association. This large study showed a prospective association of infant muscle tone with autistic traits in childhood. Our findings suggest that early detection of low muscle tone might be a gateway to improve early diagnosis of ASD. Autism Res 2017, 10: 757-768. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.

BACKGROUND/AIMS: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH) transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings. CASE REPORT AND RESULTS: We describe 4 males with AHDS from two unrelated families varying in age from 1.5 to 11 years. All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic facies, high T3, low T4 and rT3, and normal/mildly elevated TSH levels. Comparison of patients at different ages suggests the progressive nature of AHDS. Genetic analyses identified a novel missense MCT8 mutation (p.G495A) in family 1 and a 2.8-kb deletion comprising exons 3 and 4 in family 2. Functional analysis of p.G495A revealed impaired TH transport varying from 20 to 85% depending on the cell context. CONCLUSION: Here we report 4 AHDS patients in unrelated Turkish families harboring novel MCT8 mutations. Despite the widely different mutations, the clinical phenotypes are very similar and findings support the progressive nature of AHDS.

Correlations of sensory processing and visual organization ability with participation in school-aged children with Down syndrome.

Previous work has highlighted delays and differences in cognitive, language, and sensorimotor functions in children diagnosed with Down syndrome (DS). However, sensory processing and visual organization abilities have not been well-examined in DS to date. This study aimed to investigate the developmental profile of sensory processing and visual organization abilities, body functions classified by the World Health Organization's ICF model, and their impacts on participation in DS to guide research and evidence-based practices. Two hundred and six children (101 boys, 105 girls) with DS (age range = 6 years 1 month to 12 years 10 months; mean age = 8 years 1 month) were assessed on measures of sensory processing (Sensory Profile), visual organization ability (Hooper Visual Organization Test), and activity participation (Vineland Adaptive Behavior Scale, School Function Assessment). Our findings characterized the developmental continuum of body functions (sensory processing and visual organization) of children with DS, and revealed their correlations with activity participation. Interventions focused on improving body functions is needed while stressing the acquisition of functional skills that increase participation in age-appropriate activities.

Prevalence, incidence and risk factors of paratonia in patients with dementia: a one-year follow-up study.

BACKGROUND: Paratonia is a progressive motor problem that is observed in individuals with dementia and is not a well-known phenomenon. This study explores the development and risk factors of paratonia in moderate stage dementia patients. METHODS: A multi-center, longitudinal, one-year follow-up cohort study was performed. Patients with an established diagnosis of dementia, with a score of 6 or lower on the Global Deterioration Scale (GDS) were included. The participants were assessed using the Paratonia Assessment Instrument (PAI), the Timed Up and GO test, the Qualidem, the Global Deterioration Scale (Reisberg et al., 1982) and the Mini-mental State Examination. Information about each patient's diagnosis of dementia, comorbidities and use of medication were obtained from the participant's medical file. The PAI was assessed every three months, the other variables at baseline and after 12 months. Cross-tabulation χ2 and logistic regression tests were used for the statistical analyses. RESULTS: Baseline measures were assessed in the 204 participants - 111 (54%) female and 93 (46%) male, with a mean age of 79.8 years (56-97). Seventy-one patients (34.8%) were diagnosed with paratonia at baseline, and 51 patients developed paratonia over one year. The highest hazard ratio (3.1) for developing paratonia within one year was observed in the vascular dementia group. The logistic regression analysis revealed that the presence of diabetes mellitus (OR = 10.7) was significantly related to the development of paratonia (Wald χ2 p-value < 0.01). CONCLUSIONS: Diabetes mellitus and likely vascular damage are risk factors for the development of paratonia.

Integração personalização e realização: a teoria do desenvolvimento emocional de Winnicott / Weight reduction for primary prevention of stroke

O desenvolvimento emocional primitivo, considerado por Winnicott como a espinha dorsal de sua obra, é o tema da presente dissertação. Dessa forma, os concomitantes estágios que o bebê vivencia ao longo do processo maturacional a saber, integração, personalização e realização são aqui apresentados de modo a demonstrarmos sua importância na constituição da subjetividade do infante. O estágio de integração, o principal aspecto do desenvolvimento infantil, é o tema do primeiro capítulo. Nesta parte inicial da dissertação, são descritos alguns fundamentos teóricos winnicottianos associados a este processo: a necessidade de uma mãe suficientemente boa, a existência teórica de uma não-integração primária, a unidade mãe bebê, a tendência à integração do ego e a relevância do cuidado maternal (holding). O estágio de personalização constitui o tema do segundo capítulo. Os temas abordados dizem respeito à importância do manejo (handling) para o desenvolvimento do psicossoma e da capacidade de sentir-se no próprio corpo. Além disso, apresentamos uma articulação entre algumas idéias winnicottianas e a psicomotricidade e finalizamos com um exemplo de uma prática psicomotora com gestantes e alguns comentários sobre um caso clínico. No terceiro e último capítulo, abordamos o estágio de realização a partir dos seus imbricados temas, a saber: a primeira mamada teórica, os objetos subjetivos e objetivos, os objetos e fenômenos transicionais e a desilusão gradual necessária para o bebê poder alcançar a fase do EU-SOU. E, finalmente, mencionamos a idéia de que a relação tônica entre mãe e bebê explicitada no segundo capítulo é a base para a experiência de autocriatividade do sujeito e, conseqüentemente, para a construção do sentimento de que a vida vale a pena.

This dissertation has the purpose of presenting some ideas about primitive emotional development. This was considered by Winnicott as the main point of his work. Therefore, theconcomitant stages the infant lives though his/her maturation process – integration, personalization and realization – will be presented here in such a way that we can demonstratethe importance they have in the infant’s subjectivity constitution. The stage of integration is the principal aspect of the child development. That is the theme of the first chapter. In this initial part of the dissertation, we describe some of thetheoretical principles that Winnicott associates to this process: the necessity of a “goodenough mother”, the theoretical existence of a “non-primary integration”, the unity motherchild,the tendency to ego integration and the relevance of maternal care (holding).The personalization stage is the theme of the second chapter. The topics mentioned here clarify how important handling is to the development of the pshycossoma as well as to the capacity of “feeling yourself in your own body”. Besides that, we present an articulationbetween Winnicott’s ideas and psychomotricity. We end up whit a sample of a psychomotricity practice with pregnant women and some comments about a clinical case.In the third chapter, we write about the realization stage and its complex themes: the first theoretical breast feeding, the subject and objective objects, the transitional objects andphenomena, and the gradual delusion that is necessary for the infant to reach the “I am” phase. Finally we mention the idea that the tone relation between the mother and the baby – that was explained in chapter two – is the basis for the individual experience of self creativity and, consequently, for the construction of the feeling that life is worthwhile.

Communication in young children with motor impairments: teaching caregivers to teach.

Communication between caregivers and children with moderate to severe motor impairments is a tremendous challenge, and one that deserves attention as a central component of early intervention programs. This article examines a caregiver-training program that explored key elements to creating strong communicative interactions between young children with moderate to severe motor impairments and their primary caregiver. Three caregiver-child dyads participated in a 3-week treatment program teaching caregivers how to provide communicative opportunities, wait for a clear communication signal from their children, recognize their children's signal, and finally, shape a more advanced communicative behavior. These adult behaviors were designed to increase the children's use of conventional engaging signals of communication. Results revealed that caregivers demonstrated success learning all behaviors except for shaping during the brief treatment period. Children's engaging communicative behaviors increased correspondingly with the caregivers' changes. These findings have positive implications for caregiver training. Implications for "best practice" are considered.

Performance of the Brighton collaboration case definition for hypotonic-hyporesponsive episode (HHE) on reported collapse reactions following infant vaccinations in the Netherlands.

We reviewed collapse (sudden onset of pallor, limpness and hyporesponsiveness) following the first infant (DPTP+Hib) vaccination reported to the enhanced passive surveillance system of the Netherlands in 1994-2003. All 1303 reports identified by the current RIVM (National Institute for Public Health and Environment) case definition were captured by the Brighton Collaboration (BC) case definition, with in 17 (1.3%) reports insufficient information. Over the years the proportion of the highest level of diagnostic certainty (level 1) increased due to more complete data from 70% to over 90%. We checked the BC case definition also on a sample of cases (with pallor or hyporesponsiveness) not meeting RIVM's case definition for collapse at the time. Sixty out of 200 cases were captured by BC but again rejected by RIVM. The sensitivity BC levels 2 and 3 appeared too high. We recommend a more restrict case definition by the Brighton Collaboration with certain exclusion criteria to make it more specific. Furthermore a change in the specifications for levels 2 and 3 will increase specificity and accommodate for the loss of sensitivity.

Parenting stress and its relationship to the behavior of children with Joubert syndrome.

This study describes the relationship between parenting stress and behavior in children with Joubert syndrome, a rare genetic neurodevelopmental disorder. Parents (N = 43) reported severely impaired child adaptive behaviors. Most children did not show maladaptive behaviors, but a subset of approximately 20% displayed significant problems in areas such as inattention, overactivity, social withdrawal, and atypical behaviors. Mothers (59%) and fathers (40%) reported elevated levels of parenting stress. A hierarchical regression, including demographics, adaptive behavior, and maladaptive behavior, predicted 67% of the variance in mothers' stress and 40% of the variance in fathers' stress. Maladaptive behaviors uniquely contributed to maternal and paternal stress. The child's adaptive behavior level contributed significantly to parenting stress for mothers but not for fathers. Findings provide a better understanding of the impact of child behavior on parents caring for a child with Joubert syndrome.

Medical assessment. Its role in comprehensive psychiatric evaluation.

This article describes the role of a medical evaluation in the overall developmental assessment of a young child. General guidelines for conducting the evaluation and practical issues to consider in dealing with young children and their families are provided. To illustrate these points, hypotonia and failure to thrive, two broad categories of pathology with numerous potential underlying medical causes, are addressed specifically. The involvement of genetics in developmental pathology is also outlined in some detail. Finally, issues to be aware of when considering pharmacologic management of psychiatric symptoms in young children are discussed.

Rhythmic motor behavior of preambulatory motor impaired, Down syndrome and nondisabled children: a comparative analysis.

The developmental course of rhythmic motor behavior was followed longitudinally for three groups of preambulatory children--normally developing, Down syndrome, and those with profound motor impairment. The groups differed in chronological age but were comparable with respect to motor age. The motor impaired subjects displayed significantly less rhythmic motor behavior than the nondisabled and Down syndrome groups. In comparing particular subtypes of rhythmic motor behavior, differences were found in both the average number of bouts and duration of subtypes among the groups. Longitudinal analyses of the data over the entire observation period revealed that the rhythmic motor behavior of the children with Down syndrome was more similar to that exhibited by the nondisabled children than was the rhythmic motor behavior of the children with motor impairment. However, there was considerable variability among the groups in several particular subtypes.

Castillo-Morales' orofacial therapy: treatment of 67 children with Down syndrome.

Infants with Down syndrome often present with a typical orofacial disorder, the features of which include hypotonicity of the perioral muscles, lips and chewing muscles, and a protruding tongue, later followed by active tongue protrusion, as well as problems with sucking, drooling, etc. This study presents the effects of Castillo-Morales' therapy with 67 Down syndrome children (average age at start of therapy 13.9 months), who wore the palatal plate intermittently for an average of 12.1 months. Significant positive results were obtained in spontaneous tongue position, upper and lower lip tonicity and position, mouth closure, drooling and sucking.

A child of high intelligence with the Johanson-Blizzard syndrome.

In this article, a boy is presented with the Johanson-Blizzard syndrome and high intelligence. In the literature, a wide range of intellectual abilities of children with the Johanson-Blizzard syndrome is reported. To obtain optimal conditions for the development of a child with the Johanson-Blizzard syndrome, early diagnosis of potential problems that may prevent this normal growth and development is recommended. The acquisition of more knowledge concerning the hypothetic reasons for intellectual impairment is of vital importance for families involved, in the light of genetic counseling.

Passive tactile stimulation effects on the muscle tone of hypotonic, developmentally delayed young children.

A pilot study was performed with 13 children, 1 to 4 yr. of age, to explore an heretofore uninvestigated area. The effect of passive tactile stimulation was an increase in muscle activation and hence the muscle tone of 13 hypotonic, developmentally delayed children.

A method for detecting functional weakness.

A simple electrophysiological method is described for detecting weaknes of psychiatric origin. The method involves the interpolation of a single indirect stimulus to a muscle during the course of a supposedly maximal voluntary contraction. Incomplete motor activation is revealed by the presence of a twitch superimposed on the recording of voluntary torque.