Hockenberry: Wongs Essentials of Pediatric Nursing, 10th Edition

Chapter 03: Developmental and Genetic Influences on Child Health Promotion

Key Point Summaries

Growth is a change in quantity and occurs when cells divide and synthesize new
proteins.

Maturation, a qualitative change, is the aging process or an increase in competence
and adaptability.
Differentiation refers to a biologic description of the processes by which early
cells and structures are modified and altered to achieve specific and characteristic
physical and chemical properties.
Development involves change from a lower to a more advanced stage of
complexity.
Growth and development proceed in predictable patterns of direction, sequence,
and pace.
The directional trends in growth and development are cephalocaudal,
proximodistal, and mass to specific.
Physical development includes increase in height and weight and changes in body
proportion, dentition, and some body tissues.
The three broad classifications of child temperament are the easy child, the
difficult child, and the slow-to-warm-up child.
The developmental theories most widely used in explaining child growth and
development are Freuds psychosexual stages, Eriksons stages of psychosocial
development, Piagets stages of cognitive development, and Kohlbergs stages of
moral development.
To develop a positive self-concept, children need recognition for their
achievements and the approval of others.
Through play, children learn about their world and how to relate to objects,
people, and situations.
Play provides a means of development in the areas of sensorimotor and
intellectual progress, socialization, creativity, self-awareness, and moral behavior; it
serves as a means for release of tension and expression of emotions.
Growth and development are affected by a variety of conditions and
circumstances, including heredity, physiologic function, gender, disease, physical
environment, nutrition, and interpersonal relationships.
Childrens vulnerability and reaction to stress depend to a large extent on their
age, coping behaviors, and support systems.

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Key Point Summaries 3-2

The mass media can be influential in childrens learning and behavior.

Developmental screening tools are valuable in identifying infants and children
who are at risk for developmental delays.
Genetic mutations and polymorphisms can be inherited or acquired although these
are rare.
All nurses should be familiar with genetic or genomic information as it relates to
the care of their patient.
Genes are segments of DNA that contain genetic information necessary to control
a certain physiologic function or characteristic. These segments are often referred to
as sites, or loci, indicating a physical or geographic location on a chromosome.
Genetic disorders may result from gene mutations (single-gene, polygenic, or
mitochondrial disorders) or chromosome abnormalities. Genes that encode proteins
are termed structural genes. Mutations in structural genes may have significant
qualitative and quantitative effects on the synthesis of the corresponding protein, with
potential clinical consequences.
Genetic diseases may be caused by chromosome abnormalities, gene mutations,
or mtDNA mutations. In addition, expressions of a genetic disease are often
influenced by environmental factors.
Congenital anomalies, or birth defects, occur in 2% to 4% of all live-born
children and are often classified as deformations, disruptions, dysplasias, or
malformations. Congenital anomalieserrors of morphogenic developmentmay
arise at any stage of development and demonstrate wide variability in causative
factors. Environmental teratogens and maternal disease may also disrupt fetal
development, leading to birth defects.
Genetic disorders can be caused by chromosome abnormalities as seen in Turner
syndrome, Down syndrome, or velocardiofacial syndrome (VCFS); single-gene
mutations as seen in sickle cell anemia, neurofibromatosis, or Duchenne muscular
dystrophy; a combination of genetic and environmental factors as seen in NTDs or
maturity-onset diabetes in the young; and mitochondrial deoxyribonucleic acid
(mtDNA) mutations as seen in nonsyndromic deafness susceptibility caused by
aminoglycoside sensitivity.
Both numeric and large structural abnormalities of autosomes (all chromosomes
except the X and Y chromosomes) account for a variety of syndromes usually
characterized by cognitive deficiencies. Nurses often note dysmorphic facial features,
behavioral characteristics such as an unusual cry and poor feeding behavior, and other
neurologic manifestations such as hypotonia or abnormal reflex responses, which
may alert them to these and other chromosome abnormalities.
The intrauterine environment can have a profound and permanent effect on the
developing fetus, with or without chromosome or single-gene abnormalities.
Intrauterine growth restriction, for example, can occur with many genetic syndromes,

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Key Point Summaries 3-3

such as Down, Russell-Silver, Prader-Willi, and Turner syndromes, or it can be

caused by non-genetic factors such as maternal alcohol ingestion.
A genetic counseling goal is to provide individuals and families with information
needed to make informed decisions about a course of action that is most appropriate
to them. It is a nurses responsibility to learn basic genetic principles, to be alert to
situations in which families could benefit from genetic evaluation and counseling, to
know about special services that can help manage and support affected children, and
to be familiar with facilities in their areas where these services are available. In this
way, nurses will be able to direct individuals and families to needed services and be
active participants in the genetic evaluation and counseling process.
Competent nursing practice includes applying and integrating genetic and
genomic knowledge while performing nursing assessments; identifying and referring
patients and families who may benefit from genetic services; identifying resources for
patients and families; and providing education, care, and support.
Family health history is an important tool to identify individuals and families at
increased risk for disease, risk factors for disease (such as obesity), and inheritance
patterns of diseases. Because of its importance, all nurses need to be able to elicit
family history information and document the collected information in pedigree
format.

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