Jane Gilmour

A new stress-related syndrome of growth failure and hyperphagia in children, associated with reversibility of growth-hormone insufficiency

BACKGROUND Growth failure without organic aetiology but associated with behavioural disturbance and psychosocial stress has been termed psychosocial short stature. This condition is not a valid diagnostic entity, but encompasses failure to thrive, stunting secondary to chronic malnutrition, and idiopathic hypopituitarism. Some children show spontaneous catch-up growth when removed from the source of stress, without further treatment, but until now precise definition of this subgroup for the purpose of clinical identification has not been possible. METHODS Hospital-referred children with growth failure unrelated to organic pathology, who came from stressful homes, were compared with children of short-normal stature identified from an epidemiological survey (n = 31). Growth-hormone dynamics were studied in the hospital group by a combination of diurnal profiles and provocation tests. The tests were repeated after a hospital stay of 3 weeks away from familial stress. Standard behavioural measures were obtained from home and school. FINDINGS In a distinctive subgroup (n = 29), growth-hormone insufficiency was associated with characteristic behavioural features, especially hyperphagia and polydipsia, and a normal body-mass index. When the children were removed from their stressful home circumstances, growth-hormone insufficiency spontaneously resolved only in formerly hyperphagic subjects. 74% of the non-hyperphagic cases (n = 23) were anorexic, with a low body-mass index and normal growth-hormone responses to provocation tests. INTERPRETATION We present explicit behavioural and developmental criteria by which the novel syndrome of hyperphagic short stature may be recognised clinically. Such children have a capacity for spontaneous recovery of growth-hormone production on removal from or reduction of stress. Discriminant and predictive validity of the core symptoms are demonstrated. Preliminary familial studies indicate a possible genetic predisposition.

Toward specifying Pervasive Developmental Disorder - Not Otherwise Specified

Pervasive developmental disorder—not otherwise specified (PDD‐NOS) is the most common and least satisfactory of the PDD diagnoses. It is not formally operationalized, which limits its reliability and has hampered attempts to assess its validity. We aimed, first, to improve the reliability and replicability of PDD‐NOS by operationalizing its DSM‐IV‐TR description and, second, to test its validity through comparison with autistic disorder (AD) and Aspergers disorder (AsD). In a sample of 256 young people (mean age = 9.1 years) we used Developmental, Diagnostic and Dimensional (3Di) algorithmic analysis to classify DSM‐IV‐TR AD (n = 97), AsD (n = 93) and PDD‐NOS (n = 66). Groups were compared on independent measures of core PDD symptomatology, associated autistic features, and intelligence. Contrary to the assumption that PDD‐NOS is heterogeneous, almost all (97%) of those with PDD‐NOS had one distinct symptom pattern, namely impairments in social reciprocity and communication, without significant repetitive and stereotyped behaviors (RSB). Compared to AD and AsD, they had comparably severe but more circumscribed social communication difficulties, with fewer non‐social features of autism, such as sensory, feeding and visuo‐spatial problems. These individuals appear to have a distinct variant of autism that does not merely sit at the less severe end of the same continuum of symptoms. The current draft guidelines for DSM‐V, which mandate the presence of RSBs for any PDD diagnosis, would exclude such people from the autistic spectrum. Autism Res 2011, 4: 121–131.

A Case‐comparison Study of the Characteristics of Children with a Short Stature Syndrome Induced by Stress (Hyperphagic Short Stature) and a Consecutive Series of Unaffected “Stressed” Children

Recently a type of growth failure (Hyperphagic Short Stature) has been described, in which there is potentially reversible severe impairment of growth hormone secretion, in association with excessively high levels of psychosocial stress. This condition is a variant of the disorder formerly known as Psychosocial Dwarfism. In the present study we compared children with Hyperphagic Short Stature (N = 25, aged 9.04 years+/-3.78, 72% male) and a closely matched sample with normal height, drawn from comparably stressful family circumstances (N = 25, aged 10.61+/-3.04, 60% male). Measures of the psychosocial environment, anthropometry, and developmental history from infancy were obtained. Many symptoms thought previously to be characteristics of psychosocial dwarfism were found to be nonspecific stress responses. Hypotonia (p < .05), enuresis/encopresis (p < .01), and sleep cycle disruption (p < .05) did differentiate the groups. Growth, appetite, and sleep are all influenced by hypothalamic nuclei, suggesting hypothalamic pathology could account for most of the clinical features of Hyperphagic Short Stature.