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Pediatrics May 2020As the technical ability for genetic diagnosis continues to improve, an increasing number of diagnoses are made in infancy or as early as the neonatal period. Many of... (Review)
Review
As the technical ability for genetic diagnosis continues to improve, an increasing number of diagnoses are made in infancy or as early as the neonatal period. Many of these diagnoses are known to be associated with developmental delay and intellectual disability, features that would not be clinically detectable at the time of diagnosis. Others may be associated with cognitive impairment, but the incidence and severity are yet to be fully described. These neonates and infants with genetic diagnoses therefore represent an emerging group of patients who are at high risk for neurodevelopmental disabilities. Although there are well-established developmental supports for high-risk infants, particularly preterm infants, after discharge from the NICU, programs specifically for infants with genetic diagnoses are rare. And although previous research has demonstrated the positive effect of early developmental interventions on outcomes among preterm infants, the impact of such supports for infants with genetic disorders who may be born term, remains to be understood. We therefore review the literature regarding existing developmental assessment and intervention approaches for children with genetic disorders, evaluating these in the context of current developmental supports postdischarge for preterm infants. Further research into the role of developmental support programs for early assessment and intervention in high-risk neonates diagnosed with rare genetic disorders is needed.
Topics: Developmental Disabilities; Early Intervention, Educational; Genetic Diseases, Inborn; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases
PubMed: 32327449
DOI: 10.1542/peds.2019-0629 -
International Journal of Developmental... Aug 2014Autism is a severe neurodevelopmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication, and repetitive... (Review)
Review
Autism is a severe neurodevelopmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication, and repetitive behavior and restricted interests. The normal brain development during fetal brain development and the first year of life is critical to the behaviors and cognitions in adulthood. Programmed cell death (apoptosis) is an important mechanism that determines the size and shape of the brain and regulates the proper wiring of developing neuronal networks. Pathological activation of apoptotic death pathways under pathological conditions may lead to neuroanatomic abnormalities and possibly to developmental disabilities. It has been demonstrated a possible association between neural cell death and autism. Here, the abnormal apoptosis found in autism from postmortem and animal studies was reviewed and the possible mechanism was discussed.
Topics: Animals; Apoptosis; Autistic Disorder; Developmental Disabilities; Humans; Oxidative Stress
PubMed: 24798024
DOI: 10.1016/j.ijdevneu.2014.04.004 -
Seminars in Fetal & Neonatal Medicine Feb 2019Late preterm infants (born at 34-36 weeks gestation) have been found to have increased morbidity and mortality compared to full term infants. Research has also been done... (Review)
Review
Late preterm infants (born at 34-36 weeks gestation) have been found to have increased morbidity and mortality compared to full term infants. Research has also been done to explore longer-term neurodevelopmental outcomes. This review details neurodevelopmental outcomes from birth to adulthood for late preterm infants. Outcome studies indicate that they are at increased risk of developmental disability, school failure, behavior problems, social and medical disabilities, and death. Many questions still remain regarding late preterm infant neurodevelopmental outcomes and future research should be done into this topic. Given the high prevalence of late preterm births, even small differences in abilities, special education, and length of education may have broader consequences.
Topics: Child Development; Developmental Disabilities; Gestational Age; Humans; Infant; Infant, Newborn; Infant, Premature; Prevalence; Risk
PubMed: 30322826
DOI: 10.1016/j.siny.2018.10.002 -
Current Opinion in Obstetrics &... Oct 2016Care for women with developmental disabilities requires special consideration for unique needs related to their cognitive and physical abilities. These women and their... (Review)
Review
PURPOSE OF REVIEW
Care for women with developmental disabilities requires special consideration for unique needs related to their cognitive and physical abilities. These women and their caregivers require more support and guidance during reproductive health care. We review the literature and provide expert opinion surrounding gynecological issues for women with developmental disabilities to support healthcare providers better understand and care for this population.
RECENT FINDINGS
Women with developmental disabilities are more vulnerable to abuse and experience poorer gynecological healthcare outcomes. Many women with developmental disabilities are fertile and participate in sexual activity without adequate knowledge. They are at higher risk of pregnancy and birth complications. They are less likely to receive appropriate preventive screening.
SUMMARY
The review highlights important issues and practice suggestions related to the reproductive health care of women with developmental disabilities. Topics include clinic visits, menstruation, sexuality, sexual abuse, sexual health education, contraception, sexually transmitted infections, pregnancy, labor and delivery, and cancer screening/prevention. We emphasize the need for an individualized, comprehensive approach for these patients and review perceived and actual barriers to care. More education is needed on the aforementioned topics for women with developmental disabilities, their caregivers, and their providers.
Topics: Adolescent; Adult; Developmental Disabilities; Female; Gynecology; Humans; Male; Menstruation; Pregnancy; Reproductive Health; Sex Education; Sex Offenses; Sexual Behavior; Sexually Transmitted Diseases; Young Adult
PubMed: 27379438
DOI: 10.1097/GCO.0000000000000299 -
American Journal of Medical Genetics.... Aug 2020
Topics: Developmental Disabilities; Humans; Medicine, Traditional; Saudi Arabia
PubMed: 32478449
DOI: 10.1002/ajmg.a.61622 -
Journal of Mother and Child Apr 2021
Topics: Adult; Breast Feeding; Developmental Disabilities; Female; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Mother-Child Relations; Periodicals as Topic
PubMed: 33930263
DOI: 10.34763/jmotherandchild.20202403.edit.03_2020 -
Zeitschrift Fur Kinder- Und... Sep 2016
Topics: Child; Child, Preschool; Developmental Disabilities; Diagnosis, Differential; Diagnostic and Statistical Manual of Mental Disorders; Early Diagnosis; Early Intervention, Educational; Humans; Specific Learning Disorder
PubMed: 27658625
DOI: 10.1024/1422-4917/a000470 -
Pediatrics Apr 2018The Health Care Transitions Research Network for Autism Spectrum Disorder and other Developmental Disabilities and the Life Course Research Network, both funded by the...
The Health Care Transitions Research Network for Autism Spectrum Disorder and other Developmental Disabilities and the Life Course Research Network, both funded by the Maternal and Child Health Bureau, invited articles for this Supplement. Our goal in this Supplement is to highlight and explore developmental and transition-related challenges over the life course of individuals on the autism spectrum and other neurodevelopmental disabilities, discuss the clinical and practice implications of these issues, highlight gaps in knowledge, and identify directions for future research.
Topics: Adolescent; Autism Spectrum Disorder; Developmental Disabilities; Female; Humans; Male; Transition to Adult Care; Young Adult
PubMed: 29610406
DOI: 10.1542/peds.2016-4300B -
Current Pediatric Reviews 2017Developmental Coordination Disorder (DCD) is a neurological impairment occurring in nearly 6% of general population, and sometimes mimics other developmental disorders... (Review)
Review
BACKGROUND
Developmental Coordination Disorder (DCD) is a neurological impairment occurring in nearly 6% of general population, and sometimes mimics other developmental disorders like Attention Deficit Hyperactivity Disorder (ADHD) or, in the most severe cases, intellectual deficiency.
OBJECTIVES
To review the general portrait of DCD, the physiology, the clinical assessments, and to provide an overview of functional studies on the subject. We finally report some proposed DCD managements which vary depending on the manifestation of the disorder and on the goals of the therapy.
RESULTS
DCD can be stated as a sum of fine motor, perceptual visual and executive difficulties, emerging during childhood brain development and lasting throughout adulthood. Even if DCD can be isolated from other co-morbidities in certain individuals, it is still difficult to categorize it in delimited subclasses of characteristics, e.g. problems of vision or language. The findings in functional imaging also diverge in locating the cerebral deficit for a given motor task.
CONCLUSION
Finding a single explanation seems difficult as many cerebral regions are associated with DCD and many clinical aspects are involved, but, further studies could explore genetic (or epigenetic) explanation for the prevalence of DCD in population.
Topics: Brain; Child; Developmental Disabilities; Female; Humans; Male; Motor Skills Disorders
PubMed: 28745216
DOI: 10.2174/1573396313666170726113550 -
Journal of Paediatrics and Child Health Oct 2018
Topics: Australasia; Child; Child Behavior Disorders; Comorbidity; Developmental Disabilities; History, 21st Century; Humans; Male; Mental Disorders; Pediatrics; Societies, Medical
PubMed: 30294998
DOI: 10.1111/jpc.14147