Psychosocial Short Stature 

Updated: Aug 09, 2018
Author: Andrew P Sirotnak, MD; Chief Editor: Caroly Pataki, MD 

Overview

Background

Psychosocial short stature (PSS) is a disorder of short stature or growth failure and/or delayed puberty of infancy, childhood, and adolescence that is observed in association with emotional deprivation, a pathologic psychosocial environment, or both. A disturbed relationship between child and caregiver is usually noted.[1] A number of pediatric endocrinologists have studied and categorized several generally accepted subtypes; these clinicians also have described therapeutic interventions for children with PSS.

The following 3 subtypes are described, based on the patient's age at presentation and the clinical findings:

  • In type I PSS, the age of onset is infancy. Usually, failure to thrive (FTT) is present, but no bizarre behaviors are observed. Patients are often depressed. Normal growth hormone (GH) secretion is found, but responsiveness to GH is unknown. No history of parental rejection is present in type I PSS.

  • In type II PSS, the age of onset is 3 years or older. Some of these patients have FTT. Bizarre behaviors are usually observed, and patients are often depressed. Decreased or absent GH secretion is found with minimal responsiveness to GH. A history of parental rejection or pathology is present.[2]

  • In type III PSS, the age of onset is in infancy or older. FTT is not usually present, and bizarre behavior is not usually observed. GH secretion is normal; responsiveness to GH is significant. No history of parental rejection is present.

Pathophysiology

The pathophysiology of PSS is complex, involving some nutritional factors and a heterogenous endocrine dysfunction; however, the pathophysiology mostly involves psychological and environmental pathology, affecting the growth and development of the child. Endocrine disturbances of GH, secondary thyroid dysfunction, and somatomedin C (Sm-C) levels are reported in persons with type II PSS. Linear growth is obviously delayed. Growth arrest lines are observed in long bones, and temporary widening of cranial sutures has been reported. Sleep disturbance and pain agnosia are observed. Sequelae in higher cognitive and other psychological functions have been described in adults with a history of this disorder. Some recent neuroendocrine research has been focused on the relationship of environmental stress on growth.[3, 4]

Epidemiology

Frequency

Psychosocial short stature is so rare a form of growth failure related to severe abuse or neglect that there is no epidemiological data available on the actual incidence.

Mortality/Morbidity

Mortality rates are unknown. Because this is a form of severe child neglect, morbidity can be considered present in all children diagnosed with PSS. Therefore, the rate and severity of morbidity relates to the chronic nature of the deprivation, time of diagnosis, subsequent placement into a nurturing environment, and, finally, the long-term follow-up care while living in a secure and nurturing environment.

Race

All races are affected by child neglect; however, literature and early studies report that most cases of PSS occur in Caucasians.

Sex

Increased occurrence in males has been suggested only by anecdotal reports.

Age

The age of onset for type I PSS is infancy. The onset of type II PSS is in children aged 3 years or older. The onset in type III PSS occurs in infancy or later in childhood.

 

Presentation

History

Medical literature on psychosocial short stature (PSS) has consistently described children with a history of abuse or neglect and emotional deprivation as the key historic factor in making this diagnosis. Early case reports describe the hospitalization of such children, observation of bizarre behaviors, relatively benign physical examinations, and subsequent endocrine system testing.

Several authors have suggested that the following historic factors are important in making the diagnosis of classic PSS:[5]

  • Psychological disturbance is present.

    • Bizarre behaviors centered on food and water acquisition, despite seemingly adequate caloric and fluid intake and its availability (polyphagia, polydipsia, hoarding food, gorging and vomiting, eating from garbage bin, drinking from toilet, stealing food)[6]

    • Sleep disturbances (insomnia, night wandering)

    • Abnormal behaviors (withdrawal, apathy, anxiety, irritability, temper tantrums, shyness, accident proneness, self-injury)

    • Developmental delays (speech retardation, cognitive retardation, psychomotor retardation)

  • The caregiver appears to have some psychopathology, and the relationship with the child appears or is known to be abnormal. The following can apply to mothers or caregivers and/or the environment:

    • Depression

    • Anxiety

    • Personality disorders

    • Domestic violence or marital instability[7]

    • Substance abuse

    • Absent spouse or father of child

    • Myriad of other child abuse‚Äďassociated issues involving poverty, poor education, generational abuse, and neglect

  • Abnormal endocrine function is present but normalizes when the child is removed from the unsafe and nonnurturing environment.[8]

  • Malnutrition or inadequate caloric intake alone is not demonstrated to be the primary cause of the growth failure. However, steatorrhea is often observed in individuals with type II PSS.

  • Diagnosis of PSS is confirmed by the removal of the child from the unsafe or nonnurturing environment and observation of the following with time:[9]

    • Demonstration of catch-up growth

    • Improvements in behaviors

    • Normalization of hormonal disturbances

Physical

Physical examination of the infant or child with PSS reveals short stature; height less than the third percentile for chronologic age of the child is the most common and important physical examination finding of PSS. The disorder may be mistaken for primary or idiopathic GH deficiency.[10] Many, but not all, children with PSS are underweight for height; a few children with PSS may be overweight for height. Neurologic examination findings other than those from the mental status examination are usually normal.

  • Lung and cardiac examinations are important in excluding organic causes of growth failure, such as cystic fibrosis or heart defects.

  • Protuberant abdomen and hepatomegaly, which often are found in children who are malnourished, can be observed in individuals with PSS.

  • Perform skin examination for signs of past or chronic abuse (eg, scars, burns, pattern injury) and signs of nutritional or vitamin deficiency.

  • Perform examination of genitals and anus for evidence of past or chronic sexual abuse in any patient with child abuse or neglect.

  • A neurologic examination to exclude organic causes of bizarre behaviors is usually performed.

Causes

Psychological factors of emotional deprivation have been demonstrated to cause transient GH deficiency in children with PSS. Nutritional deprivation or general caloric deprivation alone is not a major causal factor. The underlying cause of this deprivation by the caregiver can be determined only after the child is removed from the home and a multidisciplinary investigation of the family environment is completed. As in many cases of child abuse and neglect, the reason for the maltreatment may never be determined nor completely explained.

 

DDx

 

Workup

Laboratory Studies

Order baseline screening for FTT to exclude common organic causes of growth failure. In psychosocial short stature (PSS), results of these tests are within the reference ranges. Baseline screening for FTT includes the following:

  • CBC count

  • Urinalysis

  • Renal function screens (BUN, creatinine)

  • Stool for ova and parasites

  • Stool fat analysis

  • Sweat test (if cystic fibrosis is suspected)

A pediatric endocrinologist should evaluate the endocrine dysfunction observed in these patients. A heterogeneous pattern of abnormalities is observed in persons with type II PSS.

Fasting GH levels are less than the reference range in individuals with type II PSS, and fasting GH levels are within the reference range in persons with type I PSS and type III PSS. Arginine stimulation testing often fails to release GH in individuals with type II PSS. Administration of GH to patients with type II PSS produces minimal or no growth response and induces only a minimal rise in Sm-C or insulinlike growth factor-1 (IGF-1).

Sm-C and IGF-1 levels have been demonstrated to be low in the limited number of children with type II PSS who have been tested. These levels have been shown to normalize when the child is removed from the adverse environment. Sm-C and IGF-1 levels are within the reference range in persons with type III PSS.

Corticotrophin (ACTH) secretion measured by metyrapone testing can be abnormally low in persons with type II PSS. ACTH secretion eventually normalizes when the child is in a nurturing environment.

Thyroid function determined by iodine uptake can be outside of the reference range. Peripheral thyroxine (T4) levels are usually within the reference range in individuals with all types of PSS.

Imaging Studies

No routine radiology studies are needed. If review of history or physical examination is suggestive of skeletal trauma, appropriate radiographs should be obtained.[11] If the mental status examination is markedly abnormal, obtain imaging studies of the brain exclude brain tumor, the most common solid tumor of childhood.

  • Severe abdominal distention or signs of bowel obstruction may prompt evaluation with abdominal plain film radiography or upper gastrointestinal (UGI) series. Bezoars from food gorging and nonspecific alterations of bowel motility have been reported.

  • Temporary widening of the cranial sutures has been reported and may be related to the rapid increase in brain growth during catch-up growth in height and weight.

  • Temporary growth arrest lines can be observed in metaphyses of the long bones.

Other Tests

EEG abnormalities have been reported in the early phase of type II PSS in hospitalized children with the condition.

Decreased slow-wave sleep (stages III and IV) has been demonstrated; however, this reverses to normal when the child is removed from the adverse environment.

Procedures

No routine procedures are necessary for diagnostic evaluation.

 

Treatment

Medical Care

Removing the child with psychosocial short stature (PSS) from the dangerous or nonnurturing environment is the critical intervention that must occur. This intervention, with appropriate mental health treatment (if needed), improves the abnormal behaviors often observed in individuals with type II PSS. Additional therapy may involve other medical and hormonal therapies, depending on the results of testing. Return to the previous environment has been demonstrated to result in rapid deceleration of the improved growth rate.

Addressing the psychosocial pathology in the child's environment must occur if returning the child to the previous caregiver is considered. Many such caregivers have their own histories of abuse, neglect, or both and may require intensive mental health therapy to be able to effectively parent.

In treating individuals with PSS, address any diagnosis of depression or other mood disorder. Therapy with child psychiatry or psychology may include medication.[12]

Growth curves of 5 children with psychosocial shor Growth curves of 5 children with psychosocial short stature are depicted. In each instance, the increase in the slope of the curve occurred simultaneously with removal from the adverse home environment. The asterisk (*) notes the time of this removal.

Consultations

As in any chronic or complex pediatric disease, a multidisciplinary team approach is generally preferred.

  • Consult a pediatric endocrinologist when treating individuals with PSS because diagnostic testing and hormonal therapy may be indicated. A specialist best guides such therapy.

  • Involve mental health professionals to evaluate for comorbid diagnoses and to participate in treatment planning. Mental health consultation may be recommended for the caregivers and facilitated by the child's mental health consultant.

  • A social service evaluation of the family situation is mandatory.

  • A nutritionist can provide recommendations on dietary evaluation and treatment.

  • A child developmental specialist evaluation is valuable and aids in treatment plans.

  • A pediatric child abuse specialist familiar with the complexity of such cases can also help guide diagnosis and care.

Diet

A routine diet for age is appropriate. An evaluation by a nutritionist is helpful in any person with malnutrition. Such a consultant may recommend evaluation for vitamin and mineral deficiency.

Activity

Normal activity without restriction is appropriate unless a comorbid diagnosis prevents activity or the child with PSS needs more intensive supervision.

 

Medication

Medication Summary

No routine drug therapy is indicated. Consult with a pediatric endocrinologist to guide therapy with replacement GH. A licensed mental health professional may recommend medication if required for a comorbid diagnosis.

 

Follow-up

Further Outpatient Care

See the list below:

  • Routine medical care

  • Continuation of hormonal therapy, if needed

  • Close monitoring of growth velocity and weight

  • Mental health treatment, including family therapy if the family remains intact and the child is returned

  • Treatment for any comorbid diagnoses

Further Inpatient Care

The primary purpose of inpatient evaluation of children with psychosocial short stature (PSS) is providing an emergently needed safe environment.

  • A controlled observation period sometimes is necessary to make the diagnosis. This also allows the consultants to take a detailed history of the child and the environment.

  • A pediatric endocrinologist may perform testing requiring close observation and frequent blood work.

  • Initial outpatient evaluation can be performed only if the child already has been removed from the previous environment.

Inpatient & Outpatient Medications

Provide medication as recommended by endocrinology and mental health consultants.

Transfer

Hospitalization at a specialized pediatric care facility is desirable. If inpatient treatment is not possible, consultation with pediatric experts at such a facility is warranted at the earliest possible time.

Deterrence/Prevention

Prevention of this severe form of child abuse and neglect is possible by early identification of family risk factors for abuse and neglect, identification of FTT or growth failure, and maintenance of a high index of suspicion for child neglect when evaluating pediatric growth failure.

Prognosis

Catch-up growth

Prognosis for catch-up growth in children with PSS depends on the age of the child, early recognition of the condition, and removal from the unsafe environment.

Endocrine abnormalities, sleep aberrations and abnormal EEG patterns, pain agnosia, and behaviors all rapidly improve when the child is removed from the adverse environment.

Catch-up growth can be demonstrated on growth curves when the diagnosis is made before adolescence.

Limited longitudinal studies are available to state whether children will reach their genetic height potential.

Intelligence

Prognosis for intelligence in persons with type II PSS is guarded given that the child has come from an abusive or emotionally deprived environment.

When placed in an intellectually stimulating environment in early childhood, the child's ability to function at normal range may be maintained.

Emotional and psychological stability

Prognosis for emotional and psychological stability as adults is poor.

Prognosis particularly is guarded for children diagnosed late in childhood.

These children may become adults whose emotional and psychiatric health impedes their ability to appropriately parent.

Patient Education

Patient education may vary depending on the developmental level or learning disability of the child when diagnosed.

For patient education resources, see the Growth Hormone Deficiency Center, as well as Growth Failure in Children, Growth Hormone Deficiency, and Growth Hormone Deficiency FAQs.