A 2007 study showed the efficacy of leucine and isoleucine supplementation in one patient. Larger studies are being conducted. History
First noted by Hugh W. Josephs in 1936, the condition is however named for the pediatricians Louis K. Diamond and Kenneth Blackfan, who described congenital hypoplastic anemia in 1938. Responsiveness to corticosteroids was reported in 1951. In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an association with skeletal abnormalities. In 1997, a region on chromosome 19 was determined to carry a gene mutated in some DBA. In 1999, mutations in the ribosomal protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients. In 2001, a second DBA gene was localized to a region of chromosome 8, and further genetic heterogeneity was inferred. Additional genes were subsequently identified. See also
List of hematologic conditions
Pure red cell aplasia

References
External links

GeneReviews/NCBI/NIH/UW entry on Diamond–Blackfan Anemia
OMIM entries on Diamond–Blackfan Anemia
Diamond–Blackfan anemia Genetics Home Reference
Others use the general category label of PDD because they are hesitant to diagnose very young children with a specific type of PDD, such as autism. Both approaches contribute to confusion about the term, because the term PDD actually refers to a category of disorders and is not a diagnostic label. Signs and symptoms
Symptoms of PDD may include behavioral and communication problems such as:

Difficulty using and understanding language
Difficulty relating to people, objects, and events; for example, lack of eye contact, pointing behavior, and lack of facial responses
Unusual play with toys and other objects. Paranoia, a characteristic form of social anxiety, derealization, transient psychosis, and unconventional beliefs if environment or routine are changed without notice
Repetitive body movements or behavior patterns, such as hand flapping, hair twirling, foot tapping, or more complex movements
Difficulty regulating behaviors and emotions, which may result in temper tantrums, anxiety, and aggression
Emotional breakdowns
Delusional or unconventional perception of the world
Maladaptive daydreaming
Mirrored-Self Misidentification – the delusion that the individual in the mirror that you are, is a child, even though you are an older teen or an adult

Degrees
Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information – loud noises, lights – are common. Diagnosis
Diagnosis is usually made during early childhood.