Following a pregnancy without complications the patient was born via section due to bleedings (placenta praevia). Genetic investigations did not demonstrate any chromosomal or molecular genetic abnormalities, no sign of fragile-x-syndrome and no mutation of the MECP2-gene. Diagnostics of inborn errors of metabolism, e.g., of Lesch-Nyhan syndrome, were also inconspicuous.
The patient, at that time an 11-year-old autistic (Kanner's autism) and mentally retarded male youth with infantile cerebral palsy, was referred for treatment of SIB to the out-patient unit of the Department of Child and Adolescent Psychiatry of Cologne University Hospital. In the first years of his life occasional complex partial and generalized epileptic seizures occurred which were abolished completely by anti-epileptic medication.
The patient's SIB had already developed in his infancy at age 3 and deteriorated severely and continuously during the last two years before referral. Almost permanent restraint and around-the-clock staff supervision became necessary to prevent severe self-injury. As a result of permanent body restraint and infantile cerebral palsy (severe spastic paraparesis of the lower extremities and mild spasticity in the upper extremities) the boy had to use a wheel-chair for years, thus becoming unable to stand freely or to walk unaided.
Along with SIB, features characteristic for the autistic syndrome developed which added to compromising his condition extremely. He was unable to communicate verbally, since language development had failed. Except with his parents and his elder brother, who is also suffering from Kanner's autism, no social interactions were possible. It was not feasible to establish eye contact. He did not exhibit any exploratory behavior and suffered from progredient, eventually most severe anxiety attacks, emotional tensions, and temper tantrums. Despite adequate medication, nocturnal sleep was interrupted every 1-1.5 h by prolonged periods of screaming and SIB which worsened the social situation considerably.
The severity of the boy's symptoms, especially his inability to communicate and collaborate, precluded the application of standard tests used for assessment of symptoms of the autism spectrum (e.g., The Autism Diagnostic Observation Scale, ADOS: (Lord et al.,), and the Social Responsiveness Scale; SRS: Constantino and Gruber,). Repeated observations of the parent-child-interaction, behavioral monitoring at the kindergarten as well as administering a specific autism-interview (ADI-R; Lord et al.,) confirmed the diagnosis of Kanner's autism.
Initially, the patient was treated pharmacologically with neuroleptic drugs for preventing self-injury and to permit an at least transient release from permanent restraint. At age 10, neuroleptic therapy was started with Risperidone  (maximal dose of 2 mg/day). This successfully held at bay SIB for about two years. With the boy entering puberty, aggression and SIB increased, despite the administration of the maximally tolerated dose of Risperidone .
Since the therapy with Risperidone  obviously did not suffice, medication was changed to Topiramate , an anti-epileptic and anti-migraine agent as well as a mood-stabilizer; maximum dose of 200 mg/day. This also failed to sufficiently reduce the self-harming behavior. Therefore, the medication schedule was abandoned again and replaced by a "third-generation" atypical neuroleptic, Aripiprazole , which was administered at 20 mg/day and markedly reduced SIB for several weeks. Subsequently, frequent episodes and outbursts of aggressive behavior recurred, calling for additional sedative medication using benzodiazepines (Lorazepam ) and permanent restraint to lessen self-injury.
In summer 2009, when the boy was 13-years-old, life-threatening SIB could no longer be prevented or averted with psychopharmacological treatment regimens and behavioral therapy alone. At this point, neuromodulation using DBS in the amygdaloid nuclei and the supra-amygdaloid projection system was considered.
After having received informed consent by both parents as well as a permit by the ethical committee (IRB) of the University of Cologne, surgery was performed 10/23/2009 and DBS initiated. In addition to DBS, pharmacological treatment with Aripiprazole  at 20 mg/day was continued over the first year of follow-up and gradually reduced thereafter.