Approach to the Child with Birth Defects

In the mid-1960s, David W. Smith coined the term dysmorphology to describe the field of medicine devoted to the study of abnormal human development. His intent was to propose a term that both replaced teratology (whose literal meaning and reference to monsters was pejorative) and captured the essence of the discipline. The ability to recognize and interpret minor and major anomalies is an important skill that is required for evaluating a child with a birth defect.

A syndrome is a pattern of birth defects that are etiologically related and regularly recur in different individuals (eg, Down syndrome). In other areas of medicine, the word syndrome often refers to a specific set of symptoms that are not necessarily etiologically related (eg, nephrotic syndrome).

A sequence is a primary defect with a secondary cascade of structural changes

.Birth defects that represent a sequence are usually localized to a single body area. Whereas a sequence can often be misinterpreted as a group of malformations, more critical inspection reveals a single malformation and a subsequent disruption or deformation. For example, the Pierre Robin sequence is caused by a primary abnormality in mandibular development that produces disruption of palatal closure and secondary obstruction of the airway by the tongue. A sequence can occur in isolation or be a component of an underlying syndrome diagnosis. For example, about 20% of children with Pierre Robin sequence have a disorder of connective tissue called Stickler syndrome (characterized by joint hyperextensibility and myopia).

An association is two or more primary defects that occur in the same individuals more often than is expected by chance: Defining a group of defects as an association suggests that the anomalies are etiologically related to each other, yet the nature and mechanism of that relationship remains unclear. For example, children with defects of the vertebrae, anus, trachea and esophagus, radius, and kidneys (renal) are often labeled with the acronym VATER association. Associations tend to be etiologically heterogenous more often than syndromes, and fewer characteristics of an association are observed in each affected child.

Clinical Practice
The approach to a child with birth defects is multifaceted and includes the collection of phenotypic data, determination of the immediate and long-term issues of care, and the provision of the family with psychological support.

Introduction to Short Stature

Disturbances of growth are the most common presenting complaints in the pediatric endocrine clinic.

Fetal growth is dependent on maternal factors (placental sufficiency, maternal nutrition, etc.), insulin-like growth factor-2 (IGF-2) and insulin.

Growth in late infancy and childhood is dependent on growth hormone/IGF-1 axis and thyroid hormone. Growth is more rapid during infancy—up to 20 cm per year. It is common to see shifts in the growth curve in the first 18 months when children are adjusting to their genetic potential growth isopleth. During childhood, growth rate is fairly constant at approximately 2 inches (approximately 5 cm) per year.
Pubertal growth is dependent on sex hormones as well as growth hormone/IGF-1 axis and the thyroid gland. There is a mild deceleration in growth velocity before initiation of pubertal growth spurt.

Abnormal growth and stature: criteria

• Child’s growth curve is crossing percentiles.
• Child’s growth rate is <2 inches or 5 cm per year.
• Height is >2 standard deviations (SDs) (4 inches/10 cm) below from midparental height.
• If poor weight gain and lack of nutrition is the problem without affecting height velocity, it is unlikely to be an endocrine cause and patient may warrant a gastrointestinal evaluation instead.

Etiology
Normal growth patterns that can look like a growth disorder

Genetic (familial) short stature. Children have normal growth velocity, normal timing of development and puberty, and bones fuse at the appropriate age. Height is short because of a short mother and/or a short father. Bone age (BA) = chronologic age (CA).

Constitutional delay of growth and puberty. Children have normal growth velocity, delayed timing of puberty, and delayed BA. There is a family history of late bloomers. Anticipate a less robust growth spurt.

Primary growth failure

• Chromosomal disorders such as Turner syndrome, Down syndrome, Noonan syndrome, Russell-Silver syndrome, Prader-Willi syndrome, and pseudohypoparathyroidism
• Skeletal dysplasias such as hypochondroplasias, achondroplasias, osteogenesis imperfecta, and Albright hereditary osteodystrophy

Growing Pains in Children

Growing pains are the most common cause of recurrent limb pain in childhood. A debate concerning the entity of growing pains has been ongoing for decades.

Causes
Growing pain is probably a misnomer because the pains are not associated with physiological growth. There appears to be no correlation between the occurrence of growing pains and the rapid phase of growth, epiphyseal closure, or hormonal changes. Perhaps this term is used because the condition occurs in growing people and does not usually occur in adulthood (after cessation of growth). An extension of the syndrome in adults may include restless leg syndrome.

Incidence
It appears that the prevalence of growing pains is between 4.2 and 33.6%; however, this wide range is dependent on the criteria utilized for diagnosis. The low incidence reported by Naish and Apley was indicative of their stricter criteria: recurrent pain lasting at least 3 months and causing disruption of normal daily activities.

Pathogenesis
The pathogenesis of growing pain is unknown. Many etiologies have been suggested, including orthopedic deformities, postural abnormalities, and psychosocial problems. Studies have shown that there is a familial incidence of growing pains and emotional disturbances. Oster reported that 39.2% of the children had multiple symptoms, with headache or abdominal pain in addition to the limb pain. Apley suggested that recurrent limb pains were perhaps an expression of a reaction pattern that might partly reflect an emotional disturbance or might reflect part of a familial pattern of pain reactivity.

Understanding Some Common Symptoms Seen In Infants

Some of the common symptoms seen in infants ( young children upto one year of age) are summarized as below:

1. Crying
Parents commonly report problems about a crying baby, in the first 3 months of life. In most of the cases no cause is found. Crying peaks at 6–8 weeks old (~3h/day, worse in the evenings) and subsides by 4 months. Cries of hunger and thirst are indistinguishable.
Sometimes a crying baby makes a disturbed parent angry and if mother has been suffering from postpartum depression it can worsen it. Sometimes it is OK to leave a baby crying if it is in the
child’s best interests. A baby who is abused due to excessive crying would rather have been left alone.
The following measures can be done for a crying baby:
• Don’t make parents feel inadequate; Explain them the normal crying and sleeping pattern of babies appropriate for the age. Parents can take turn in looking after the baby.
• Help parents recognize when their baby is tired and hungry and to apply a consistent approach to care.
• Vocal (singing), vestibular (rocking, going for a drive) or tactile stimulation (hugs) may help. Encourage help from friends/family. Simplify daily living.
• If not coping, admit to a parenting center or hospital.

Child’s Developmental Milestones- Gross Motor

Developmental and behavioral problems are very commonly seen in pediatric practice.

Child development refers to how a child becomes able to do more complex things as they get older. Development is different than growth. Growth only refers to the child getting bigger in size.

Gross motor development refers to how a child begin to use large groups of muscles to sit, stand, walk, run, etc., keeping balance, and changing positions.

The First Month

• During the first month of life most of a baby’s behavior is reflexive, meaning that his/her reactions are automatic.
• Moves head side to side.
• When held upright, holds head erect and steady.

1 to 3 Months

• Lifts shoulder while prone.
• Supports upper body with arms when lying on stomach
• Stretches legs out and kicks when lying on stomach or back
• Opens and shuts hands

4th Month

• Lifts up on hands.
• Rolls front to back.
• If pulled to sit from supine , no head lag.

6th Month

• Pulls self up to sit and sits erect with supports.
• Sits alone.
• Rolls over prone to supine.