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Genetics
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Jane A. Hurst, Richard H. Scott
Severe developmental delay occurs, particularly speech delay. Motor delay and characteristic jerky movements are often noticed from around 1 year. Seizures occur in >80% from 1–3 years. The child presents with frequent laughter, often inappropriate to the situation and a dysmorphic appearance, including a wide mouth (Figs 15.22, 15.23). One-half of patients develop microcephaly by 1 year. Patients have good physical health in the teenage and adult years with the exception of seizures. Fair colouration may be seen in those caused by 15q11.2-13 deletions if they encompass the nearby P gene.
Microdeletion Syndromes
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Gopalrao V. N. Velagaleti, Nancy J. Carpenter
Recommendations for clinical management of patients with cri du chat syndrome have been published (27). Growth parameters should be closely monitored. Some children may require gastrostomy because of feeding difficulties and poor nutrition. Echocardiograms are warranted to detect congenital heart defects. Most defects can be repaired, but these children may have problems with anesthesia due to their hypoplastic larynx and respiratory abnormalities. Patients with this condition are also prone to recurrent upper respiratory infections and otitis media that require treatment. Early assessment of developmental delays should include evaluation of cognitive abilities, gross and fine motor skills, and speech and language. Developmental disabilities should be addressed through early intervention programs. Psychological evaluation and early treatment of behavior problems including sleep disorders and hyperactivity are recommended. Because of the limited communicative abilities of children with cri du chat syndrome, it has been suggested that interventions emphasizing nonverbal commands may help reduce behavior problems.
Enuresis
Published in Quentin Spender, Niki Salt, Judith Dawkins, Tony Kendrick, Peter Hill, David Hall, Jackie Carnell, Child Mental Health in Primary Care, 2018
Quentin Spender, Niki Salt, Judith Dawkins, Tony Kendrick, Peter Hill, David Hall, Jackie Carnell
Developmental delay. Many enuretics are thought to show isolated developmental delay in acquiring bladder control at night. These children often show other areas of specific developmental delay (e.g. in motor control or speech). There is also a predictable association of enuresis with generalised learning disability.
Scoping review on noticing concerns in child development: a missing piece in the early intervention puzzle
Published in Disability and Rehabilitation, 2021
Belinda Cuomo, Annette Joosten, Sharmila Vaz
Developmental delays or “subtle developmental problems” impact a child’s development of cognition, motor skills, speech and language, social-emotional development and/or behaviour [4]. Children experiencing delays may be largely determined as being in one of three groups: those with established delays in one or more areas; those with diagnosed physical or mental conditions that may result in delay; and those who are at-risk of experiencing delays [5]. Developmental delay is a recognised global concern, with an estimated 200 million children under five years of age not reaching their developmental potential [6]. Rates of children at-risk for delays in developed nations range between 13 and 32% [7–11], with children from vulnerable families or “at-risk” groups experiencing an even higher risk of developmental concerns [12]. Failing to support child development can result in associated economic and social costs, including poorer workforce participation, heightened reliance on welfare, and increased healthcare utilisation over the life span [13].
Anxiety and depression among caregivers of young children with Congenital Zika Syndrome in Brazil
Published in Disability and Rehabilitation, 2021
Natalie A. Williams, Pompéia Villachan-Lyra, Christine Marvin, Emmanuelle Chaves, Cody Hollist, Holly Hatton-Bowers, Leopoldo Nelson F. Barbosa
Recommended clinical care of infants with CZS includes comprehensive postnatal physical and neurological examination, followed by ongoing monitoring and screening of vision, hearing, feeding, growth, and neurodevelopmental and endocrine functioning [13,14]. Early monitoring and identification of developmental delays is critical to ensure that children receive appropriate subspecialty care, such as speech, visual, occupational, and physical therapies. These services are essential to maximize children’s physical and intellectual abilities, and to promote their participation in family and community life and improve their overall quality of life. Parents and other primary caregivers are encouraged to take an active role in the care and developmental monitoring of children born with CZS [13], and are viewed by the medical team as key partners in providing ongoing developmental stimulation of these young children in the home environment. However, caregivers’ capacity to function effectively in this role may be affected by their own emotional state. Psychological distress, particularly symptoms of anxiety and depression, has been shown to compromise parents’ coping resources, diminish parent–child relationship quality, and adversely affect parents’ ability to problem-solve to meet their child’s needs [15,16].
Parents' attendance, participation and engagement in children’s developmental rehabilitation services: Part 1. Contextualizing the journey to child health and happiness
Published in Disability and Rehabilitation, 2020
Michelle Phoenix, Susan M. Jack, Peter L. Rosenbaum, Cheryl Missiuna
Six participants described their children as having ‘narrow’ speech issues with no other complications related to their health or development. These children typically had difficulties with speech sound production (e.g., couldn’t say the/k/sound) or dysfluency, but never received a ‘formal diagnosis’ from a doctor. These children and families stood in sharp contrast to families who described traumatic birth experiences with extended stays in the Neonatal Intensive Care Unit, frequent hospitalizations due to pneumonia or need for surgeries (e.g., gastrostomy tube surgery), near-death experiences of the child, risk for seizures, prolonged investigation for a diagnosis, and ongoing daily care needs related to the child’s limited self-care skills. Parents were frequently emotional when talking about these health complexities, that often took priority over the child’s particular area of developmental delay (e.g., delayed expressive language) and related therapy services. One father of a child with Cerebral Palsy recounted multiple illnesses and hospitalizations: