Psychomotor development in Cri du Chat Syndrome

Cri du Chat syndrome (CdC) is a rare disease characterized, among others, by decreased muscle tone, microcephaly, and high palate; underdevelopment of the mandible, abnormal structure and laryngeal function (somatic symptoms) and disorders of psychomotor development and intellectual disability (psychomotor symptoms). These children have a varied level of functioning and most of them do not use verbal speech. Describing the problem of preverbal communication behaviors, the following elements were taken into account: the level of behavior in the primary communication, sensory, auditory communication, organization of behavior and signaling needs. The purpose of this article is to describe the pre-verbal behavior of children with Cri du Chat syndrome. The following questions were formulated: What is the level of pre-verbal communication (primary, sensory and auditory) of a child with CdC syndrome? What are the communicative behaviors of the child with the CdC team and at what level of organization? What is the level of signaling your needs by a child with CdC? The preverbal communication behavior of children with the Cri du Chat team presented in the article indicate that they are diverse, ranging from indicating the gesture of what they need, to vocalizing in order to provoke contact with another person. The behavior of the daughter / son indicated by the parents may constitute the basis for the teaching process of preverbal communication.

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Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

The Scientific World JOURNAL ◽

10.1155/2016/3125283 ◽

2016 ◽

Vol 2016 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Andrea Guala ◽

Marianna Spunton ◽

Fabio Tognon ◽

Marilena Pedrinazzi ◽

Luisa Medolago ◽

...

Keyword(s):

Educational Intervention ◽

Positive Impact ◽

Genetic Disorder ◽

Psychomotor Development ◽

Variable Size ◽

Personalized Care ◽

Cri Du Chat Syndrome ◽

Developmental Skills ◽

Rehabilitation Programs ◽

Using Data

The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it was reported that continuous educational intervention can ameliorate their performances. To assess the efficacy of educational intervention and to develop new CdC oriented programs of rehabilitation, we compare the results obtained for many developmental skills in two groups of CdC patients undergoing two different rehabilitation programs. Using data on the development of a group of CdC patients obtained by validated Italian translation for the Denver Developmental Screening Test II, we compared a group of 13 patients undergoing an educational program developed for CdC patients, the Mayer Project (MP), with a second group of 15 cases in whom caring was not specifically oriented. A positive impact of the MP was reported by parents, observing an improvement in social skills obtained, even if no significant differences were observed when the items of the Denver Test are studied. The need for personalized care in CdC patients and the choice of different methods to compare the results are also discussed.

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Psychomotor development and minor anomolies in children exposed to antiepileptic drugs in utero: a population-based study

Developmental Medicine & Child Neurology ◽

10.1017/s0012162200220653 ◽

2000 ◽

Vol 42 (5) ◽

pp. 356-356

Author(s):

Katarina Wide ◽

Birger Winbladh ◽

Torbjörn Tomson ◽

Kerstin Sars-Zimmer ◽

Eva Berggren

Keyword(s):

Antiepileptic Drugs ◽

Population Based ◽

In Utero ◽

Psychomotor Development ◽

Population Based Study

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Growth and psychomotor development of patients with Duchenne Muscular Dystrophy

Neuropediatrics ◽

10.1055/s-0032-1307138 ◽

2012 ◽

Vol 43 (02) ◽

Author(s):

E Sarrazin ◽

M von der Hagen ◽

U Schara ◽

K von Au ◽

A Kaindl

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Psychomotor Development

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Ultrasound screening and catamnesis of euploid fetuses with nasal bones aplasia/hypoplasia

10.21516/2413-1458-2017-16-1-22-31 ◽

2017 ◽

Author(s):

N.P. Veropotvelyan, A.A. Bondarenko

Keyword(s):

Chromosomal Abnormalities ◽

Nasal Bone ◽

Normal Karyotype ◽

Psychomotor Development ◽

Ultrasound Screening ◽

Normal Height ◽

Term Infants ◽

Nasal Bones ◽

Postnatal Outcome ◽

Selection Of

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.

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Neurodevelopmental Outcomes at 18 Months of Corrected Age for Late Preterm Infants Born at 34 and 35 Gestational Weeks

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18020640 ◽

2021 ◽

Vol 18 (2) ◽

pp. 640 ◽

Cited By ~ 1

Author(s):

Ruka Nakasone ◽

Kazumichi Fujioka ◽

Yuki Kyono ◽

Asumi Yoshida ◽

Takumi Kido ◽

...

Keyword(s):

Preterm Infants ◽

Late Preterm ◽

Psychomotor Development ◽

Youden Index ◽

Chromosomal Anomalies ◽

Clinical Factors ◽

Neurodevelopmental Outcomes ◽

Late Preterm Infants ◽

Significant Difference ◽

Severe Hyperbilirubinemia

To date, the difference in neurodevelopmental outcomes between late preterm infants (LPI) born at 34 and 35 gestational weeks (LPI-34 and LPI-35, respectively) has not been elucidated. This retrospective study aimed to evaluate neurodevelopmental outcomes at 18 months of corrected age for LPI-34 and LPI-35, and to elucidate factors predicting neurodevelopmental impairment (NDI). Records of all LPI-34 (n = 93) and LPI-35 (n = 121) admitted to our facility from 2013 to 2017 were reviewed. Patients with congenital or chromosomal anomalies, severe neonatal asphyxia, and without developmental quotient (DQ) data were excluded. Psychomotor development was assessed as a DQ using the Kyoto Scale of Psychological Development at 18 months of corrected age. NDI was defined as DQ < 80 or when severe neurodevelopmental problems made neurodevelopmental assessment impossible. We compared the clinical characteristics and DQ values between LPI-34 (n = 62) and LPI-35 (n = 73). To elucidate the factors predicting NDI at 18 months of corrected age, we compared clinical factors between the NDI (n = 17) and non-NDI (n = 118) groups. No significant difference was observed in DQ values at 18 months of corrected age between the groups in each area and overall. Among clinical factors, male sex, intraventricular hemorrhage (IVH), hyperbilirubinemia, and severe hyperbilirubinemia had a higher prevalence in the NDI group than in the non-NDI group, and IVH and/or severe hyperbilirubinemia showed the highest Youden Index values for predicting NDI. Based on the results of this study, we can conclude that no significant difference in neurodevelopmental outcomes at 18 months of corrected age was observed between LPI-34 and LPI-35. Patients with severe hyperbilirubinemia and/or IVH should be considered to be at high risk for developing NDI.

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Long-Term Outcome after Asphyxia and Therapeutic Hypothermia in Late Preterm Infants: A Pilot Study

Healthcare ◽

10.3390/healthcare9080994 ◽

2021 ◽

Vol 9 (8) ◽

pp. 994

Author(s):

Hanne Lademann ◽

Karl Abshagen ◽

Anna Janning ◽

Jan Däbritz ◽

Dirk Olbertz

Keyword(s):

Pilot Study ◽

Preterm Infants ◽

Perinatal Asphyxia ◽

Psychomotor Development ◽

Long Term Outcomes ◽

Term Outcome ◽

Long Term Outcome ◽

Developmental Index ◽

Mental Developmental Index

Therapeutic hypothermia (THT) is the recommended treatment for neuroprotection in (near) term newborns that experience perinatal asphyxia with hypoxic-ischemic encephalopathy. The benefit of THT in preterm newborns is unknown. This pilot study aims to investigate long-term outcomes of late preterm asphyctic infants with and without THT compared to term infants. The single-center, retrospective analysis examined medical charts of infants with perinatal asphyxia born between 2008 and 2015. Long-term outcome was assessed using the Bayley Scales of Infant Development 2 at the age of (corrected) 24 months. Term (n = 31) and preterm (n = 8) infants with THT showed no differences regarding their long-term outcomes of psychomotor development (Psychomotor Developmental Index 101 ± 16 vs. 105 ± 11, p = 0.570), whereas preterm infants had a better mental outcome (Mental Developmental Index 105 ± 13 vs. 93 ± 18, p = 0.048). Preterm infants with and without (n = 69) THT showed a similar mental and psychomotor development (Mental Developmental Index 105 ± 13 vs. 96 ± 20, p = 0.527; Psychomotor Developmental Index 105 ± 11 vs. 105 ± 15, p = 0.927). The study highlights the importance of studying THT in asphyctic preterm infants. However, this study shows limitations and should not be used as a basis for decision-making in the clinical context. Results of a multicenter trial of THT for preterm infants (ID No.: CN-01540535) have to be awaited.

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Physical, Perceptual, Socio-Relational, and Affective Skills of Five-Year-Old Children Born Preterm and Full-Term According to Their Body Mass Index

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18073769 ◽

2021 ◽

Vol 18 (7) ◽

pp. 3769

Author(s):

Pedro Gil-Madrona ◽

Sonia J. Romero-Martínez ◽

Carmen C. Roz-Faraco

Keyword(s):

Body Mass Index ◽

Body Mass ◽

Motor Coordination ◽

Body Schema ◽

Full Term ◽

Psychomotor Development ◽

Dynamic Coordination ◽

Ex Post ◽

Ex Post Facto ◽

Affective Skills

The main purpose of this study was to compare the psychomotor development of five-year-old children born preterm and full term. The comparison included physical-motor, perceptual-motor, and socio-relational and affective skills. As low weight is one of the variables that most influences the psychomotor development of premature infants, a secondary aim was to analyze these skills according to their current body mass index (BMI). A prospective simple ex-post facto study was conducted. The sample consisted of 672 five-year-old children enrolled in the third year of early childhood education in the province of Albacete, Spain; 35 of them was born prematurely. Children were evaluated by their teachers using the Checklist of Psychomotor Activities (CPA). The results show that children born preterm had a lower development of their physical-motor skills. In the perceptual-motor field, premature children showed lower scores in the variables related to their body image and body schema, motor dissociation, and visual-motor coordination, as well as in socio-relational and affective aspects. However, the development in laterality, dynamic coordination, motor execution, tonic-postural control, and balance were not affected. These differences were not affected by the current weight, given that the analysis of the BMI indicated no differences in preterm children. This study demonstrated the need to establish protocols oriented to the prevention of the difficulties detected in children with psychomotor high-risk and the needs to reinforce the educational programs in this area to improve the integral development of children born preterm.

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01033-4 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Giada Moresco ◽

Jole Costanza ◽

Carlo Santaniello ◽

Ornella Rondinone ◽

Federico Grilli ◽

...

Keyword(s):

Intellectual Disability ◽

Clinical Presentation ◽

De Novo ◽

Clinical Signs ◽

Missense Variant ◽

Psychomotor Development ◽

Helicase Domain ◽

Protein Activity ◽

Mrna Metabolism ◽

Pathogenic Variants

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. Case presentation We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. Conclusions This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

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