Childhood ILD
Muhunthan Thillai, David R Moller, Keith C Meyer in Clinical Handbook of Interstitial Lung Disease, 2017
The presentation of chILD is very non-specific, and the condition should at least be remembered in children of any age with otherwise unexplained chronic or acute respiratory distress, hypoxaemia and failure to thrive. The US network has defined ‘chILD syndrome’ (18) to try to refine referrals for more detailed workup for chILD. This requires at least three of the following criteria in the absence of any other aetiology as the primary cause: (a) symptoms of impaired respiratory function; (b) hypoxaemia; (c) diffuse infiltrates on CXR or HRCT; (d) crackles on auscultation; and (e) abnormal lung function. It should be noted that although this is a good guide to the presence of chILD, it cannot replace clinical judgement, and over-reliance on the index may lead to diagnostic error. Additionally, chILD should be considered in the term baby with progressive respiratory distress; the baby with non-resolving bronchiolitis; unexplained iron deficiency anaemia, even in the absence of overt pulmonary haemorrhage; and children with a family history of unexpected respiratory deaths. Findings on history and examination are likely non-specific. A history of exposure to allergens, family history and any systemic features should be sought. A detailed medication history is essential; iatrogenic ILD is not uncommon (Figure 24.6). A full general and respiratory examination should be performed, and respiratory distress, hypoxaemia, digital clubbing, crackles and wheeze may all be found; however a clear chest to auscultation does not exclude chILD. Given the likely non-specific nature of the clinical findings, detailed further investigation is essential.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
A phenotype similar, although much more complex and severe than warfarin embryopathy is described in multiple sulphatase deficiency, a recessive condition caused by mutations in the sulphatase-modifying factor-1 gene (SUMF1), responsible for the activation of all the sulphatase enzymes in the cell. Child syndrome: an acronym for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, a very rare condition which shows unilateral involvement with joint contractures, limb hypoplasia and a wide range of organ malformations (cardiac, genitourinary, endocrine, cerebral);
Familial and Social Dimensions
Christopher J. Nicholls in Neurodevelopmental Disorders in Children and Adolescents, 2018
We must also stop to consider if the presenting problem resides within the child. For the most part, children referred to your office are likely to have some form of cognitive, social, learning, or medical problem that you are asked to figure out and treat. Sometimes, however, the “identified patient’s” troubles reflect a broader family system issue, a characteristic of the parent, or events that change parental perceptions of the child and influence their upbringing. This possibility was identified in the mid-1960s by Morris Green and Albert Solnit of the Departments of Pediatrics at Indiana University and the Yale School of Medicine (Green & Solnit, 1964). In an article entitled “Reactions to the Threatened Loss of a Child: A Vulnerable Child Syndrome,” twenty-five children with a history of an illness or accident that was expected to result in their death, actually recovered. Follow-up study of these children revealed that the children often had difficulties with separation, infantile behaviors, bodily over-concerns, and school underachievement, none of which were related to the medical condition they experienced. This concept was further refined to include recognition that the central concept of the vulnerable child syndrome, an increased parental perception of child vulnerability to illness or injury, led to strong influences upon the child, parent, parent-child relationship, parent-clinician relationship, and family functioning (Thomasgard & Metz, 1995). Indeed, the work of Richard Q. Bell clarified that the traditional views holding that parents influence children’s socialization were too limited to accommodate data from the studies of human and animal development (Bell, 1968). Alternatively, congenital factors in children were shown to also influence parents, such that research documenting a correlation between parent and child behavior must be considered bidirectional—i.e. children are just as likely to influence parental behavior as vice versa. As all parents quickly discover, children can “train” their parents to act in certain ways, and the relationship between a parent and one child is often different than the relationship between that same parent and another of their children.
Time Reproduction Deficits at Young Adult Follow-Up in Childhood ADHD: The Role of Persistence of Disorder and Executive Functioning
Published in Developmental Neuropsychology, 2019
Russell A. Barkley, Mariellen Fischer
This study initially utilized the original sample of 158 children determined as having hyperactive child syndrome (the diagnostic term for ADHD-C at the time) and a matched CC group (N = 81) followed concurrently. The groups were originally evaluated in 1979–80 when they were aged 4–12 years (Barkley, Karlsson, Strzelecki, & Murphy, 1984). Most (ADHD-C N = 123, or 78%; CC N = 66, or 81%) were evaluated again as teens in 1987–88 when they were 12–20 years of age (mean age 14 years) (Barkley, Fischer, Edelbrock, & Smallish, 1990). The participants were reassessed at early adulthood in 1992–96 at 19–25 years of age (mean age of 20 years) (Barkley, Fischer, Smallish, & Fletcher, 2002). The final follow-up serving as the basis for this article was in adulthood ages 24–32 (mean age of 27) conducted from 1998 to 2004 (Barkley et al., 2008) where 135 of the ADHD-C cases returned for the evaluation as did 75 of the CC cases as previously reported in this journal (Barkley & Fischer, 2011). For the present article, 131 of the original ADHD-C participants agreed to participate in all aspects of the measures reported in the present study (83%), as did 71 of the original 81 CC participants (88%).
On Death and Dying at the Beginning of Life: Grieving the Stillborn Baby
Published in The American Journal of Bioethics, 2019
Joyeeta G. Dastidar
Subsequent children of mothers who sought emotional support were less likely to form disorganized attachment as compared to children of mothers who did not seek such assistance. Another risk factor for the development of pathology later in life for the subsequent child stemmed from if there was role reversal wherein the subsequent child was tasked with providing comfort to the bereaved mother. Active grief following a perinatal loss persisted in women who were trying to conceive and diminished in women who subsequently became pregnant. However, women who became pregnant may have developed a false sense of recovery from bereavement while their underlying chronic grief was unaltered. Parents of children following a perinatal loss struggled to find a balance between maintaining a connection with their deceased child versus bonding with their subsequent living child without being overly anxious or controlling. After the loss, they valued and prioritized their living children even more while being cognizant of the subsequent child not being a “replacement child” for the lost child. Parents who tried to forget and move on from their deceased baby were more likely to exhibit prolonged or pathological grief. To this end, continuing the bond with the deceased infant served an adaptive purpose that should be promoted over “replacement child syndrome” in perinatal loss counseling practices (Unstundag-Budak 2015).
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients
Published in Ophthalmic Genetics, 2022
Yan Zhang, Wen-Bin Wei, Junyang Zhao, Xiaolin Xu, Fufeng Wang
In addition to primordial germ cells (PGC) differentiation left–right separation is another embryologic milestone that has considerable impact on the distribution of mutant cells in an individual. Variant alleles that occur before the determination of the left and right body sides can affect both sides of the individual, presumably including both gonads. In birds and mammals it occurs at, or soon after, the 8-cell stage of development (19). The exact timing of left–right separation in humans has yet to be determined. In some patients with congenital hemidysplasia and ichthyosiform erythroderma and limb defects (CHILD) syndrome, there is a striking demarcation of affected and unaffected tissues along the midline. DNA analysis of such patients detected a heterozygous pathogenic allele (c.262C>T) in the NADH steroid dehydrogenase-like (NSDHL) gene in cultured fibroblasts from the skin of the affected side but not in those from the unaffected side (26–28). The mosaic RB1 pathogenic alleles caused unilateral retinoblastoma in most cases where the pathogenic allele-bearing cells were seemingly restricted to the affected half of the body. In fact, we observed bilateral, but asymmetrical, distribution of the mutant cells across both sides in each mosaic participant. In M4, M5 the affected eyes were even on the side of conjunctival epithelia with lower variant fractions. Variant alleles being present in both ectodermal and mesendodermal tissues and bilateral tissue distribution also suggest that mosaic RB1 variant alleles occur during very early development. This is consistent with the hypothesis that a heightened mutagenic process due to reduced repair and surveillance of genome stability may occur during earlier embryonic mitoses (29,30). In participant M1 sequencing outcomes in all 11 tissue samples revealed relatively high levels of mosaicism on right limbs but absence of variant allele on left limbs (VAF = 0%) (Figure 2). Interestingly, it appears that the pathogenic allele occurred after the left–right separation of epidermal tissue on limb even though mutant cells extended to both sides of conjunctival and oral epithelium. We propose that tissue migration boundaries may be less definitive. A few cells may migrate to the opposite side even after the left–right separation.
Related Knowledge Centers
- Ichthyosis
- Laterality
- Missense Mutation
- NONsense Mutation
- Endoplasmic Reticulum
- Cholesterol
- Erythroderma
- Congenital Amputation
- X-Linked Dominant Inheritance
- X-Ray